Canonical Allele Identifier: CA577212234

Gene: CFTR

Linked Data

• dbSNP Id: rs1322232695
• gnomAD v2: 7-117120441-A-AAG
• gnomAD v3: 7-117480387-A-AAG
• gnomAD v4: 7-117480387-A-AAG
• MyVariant Identifiers: chr7:g.117120441_117120442insAG (hg19) ; chr7:g.117480387_117480388insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480388_117480389insGA , CM000669.2:g.117480388_117480389insGA	GRCh38
NC_000007.13:g.117120442_117120443insGA , CM000669.1:g.117120442_117120443insGA	GRCh37
NC_000007.12:g.116907678_116907679insGA	NCBI36
NG_016465.4:g.19605_19606insGA , LRG_663:g.19605_19606insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.53+241_53+242insGA	ENSP00000497673.2:n.53+241_53+242insGA
ENST00000647978.2:c.53+241_53+242insGA	ENSP00000497658.1:n.53+241_53+242insGA
ENST00000649781.2:c.53+241_53+242insGA	ENSP00000497203.1:n.53+241_53+242insGA
ENST00000649850.2:c.53+241_53+242insGA	ENSP00000514457.1:n.53+241_53+242insGA
ENST00000685018.2:c.53+241_53+242insGA	ENSP00000510194.2:n.53+241_53+242insGA
ENST00000687278.2:c.53+241_53+242insGA	ENSP00000509593.2:n.53+241_53+242insGA
ENST00000692802.2:n.228_229insGA
ENST00000693465.2:n.138+241_138+242insGA
ENST00000693480.2:n.137+241_137+242insGA
ENST00000699585.1:c.53+241_53+242insGA	ENSP00000514456.1:n.53+241_53+242insGA
ENST00000699596.1:c.53+241_53+242insGA	ENSP00000514465.1:n.53+241_53+242insGA
ENST00000699597.1:c.53+241_53+242insGA	ENSP00000514466.1:n.53+241_53+242insGA
ENST00000699598.1:c.53+241_53+242insGA	ENSP00000514467.1:n.53+241_53+242insGA
ENST00000699599.1:c.53+241_53+242insGA	ENSP00000514468.1:n.53+241_53+242insGA
ENST00000699600.1:c.53+241_53+242insGA	ENSP00000514469.1:n.53+241_53+242insGA
ENST00000699601.1:c.53+241_53+242insGA	ENSP00000514470.1:n.53+241_53+242insGA
ENST00000699602.1:c.53+241_53+242insGA	ENSP00000514471.1:n.53+241_53+242insGA
ENST00000699603.1:n.378_379insGA
ENST00000699604.1:c.53+241_53+242insGA	ENSP00000514472.1:n.53+241_53+242insGA
ENST00000699605.1:c.-300+241_-300+242insGA	ENSP00000514473.1:n.-300+241_-300+242insGA
ENST00000446805.2:c.-191+694_-191+695insGA	ENSP00000417012.1:n.-191+694_-191+695insGA
ENST00000692802.1:n.214_215insGA
ENST00000693465.1:n.123+241_123+242insGA
ENST00000693480.1:n.123+241_123+242insGA
ENST00000003084.11:c.53+241_53+242insGA MANE Select	ENSP00000003084.6:n.53+241_53+242insGA
ENST00000647639.1:n.137+241_137+242insGA
ENST00000647978.1:c.53+241_53+242insGA	ENSP00000497658.1:n.53+241_53+242insGA
ENST00000648260.1:c.53+241_53+242insGA	ENSP00000497957.1:n.53+241_53+242insGA
ENST00000649406.1:c.53+241_53+242insGA	ENSP00000497965.1:n.53+241_53+242insGA
ENST00000649781.1:c.53+241_53+242insGA	ENSP00000497203.1:n.53+241_53+242insGA
ENST00000649850.1:n.136+241_136+242insGA
ENST00000673785.1:c.-406+14557_-406+14558insGA	ENSP00000501235.1:n.-406+14557_-406+14558insGA
ENST00000003084.10:c.53+241_53+242insGA	ENSP00000003084.6:n.53+241_53+242insGA
ENST00000426809.5:c.53+241_53+242insGA	ENSP00000389119.1:n.53+241_53+242insGA
ENST00000446805.1:c.-191+694_-191+695insGA	ENSP00000417012.1:n.-191+694_-191+695insGA
ENST00000546407.1:n.166+4580_166+4581insGA
NM_000492.3:c.53+241_53+242insGA , LRG_663t1:c.53+241_53+242insGA	NP_000483.3:n.53+241_53+242insGA
XM_011515751.1:c.143+1043_143+1044insGA	XP_011514053.1:n.143+1043_143+1044insGA
XM_011515752.1:c.143+1043_143+1044insGA	XP_011514054.1:n.143+1043_143+1044insGA
XM_011515753.1:c.-191+694_-191+695insGA	XP_011514055.1:n.-191+694_-191+695insGA
XM_011515754.1:c.-278_-277insGA	XP_011514056.1:n.-278_-277insGA
NM_000492.4:c.53+241_53+242insGA MANE Select	NP_000483.3:n.53+241_53+242insGA