Canonical Allele Identifier: CA2603588248

Gene: CFTR

Linked Data

• gnomAD v3: 7-117480212-G-GGGT
• gnomAD v4: 7-117480212-G-GGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480213_117480215dup , CM000669.2:g.117480213_117480215dup	GRCh38
NC_000007.13:g.117120267_117120269dup , CM000669.1:g.117120267_117120269dup	GRCh37
NC_000007.12:g.116907503_116907505dup	NCBI36
NG_016465.4:g.19430_19432dup , LRG_663:g.19430_19432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.53+66_53+68dup	ENSP00000497673.2:n.53+66_53+68dup
ENST00000647978.2:c.53+66_53+68dup	ENSP00000497658.1:n.53+66_53+68dup
ENST00000649781.2:c.53+66_53+68dup	ENSP00000497203.1:n.53+66_53+68dup
ENST00000649850.2:c.53+66_53+68dup	ENSP00000514457.1:n.53+66_53+68dup
ENST00000685018.2:c.53+66_53+68dup	ENSP00000510194.2:n.53+66_53+68dup
ENST00000687278.2:c.53+66_53+68dup	ENSP00000509593.2:n.53+66_53+68dup
ENST00000692802.2:n.137+66_137+68dup
ENST00000693465.2:n.138+66_138+68dup
ENST00000693480.2:n.137+66_137+68dup
ENST00000699585.1:c.53+66_53+68dup	ENSP00000514456.1:n.53+66_53+68dup
ENST00000699596.1:c.53+66_53+68dup	ENSP00000514465.1:n.53+66_53+68dup
ENST00000699597.1:c.53+66_53+68dup	ENSP00000514466.1:n.53+66_53+68dup
ENST00000699598.1:c.53+66_53+68dup	ENSP00000514467.1:n.53+66_53+68dup
ENST00000699599.1:c.53+66_53+68dup	ENSP00000514468.1:n.53+66_53+68dup
ENST00000699600.1:c.53+66_53+68dup	ENSP00000514469.1:n.53+66_53+68dup
ENST00000699601.1:c.53+66_53+68dup	ENSP00000514470.1:n.53+66_53+68dup
ENST00000699602.1:c.53+66_53+68dup	ENSP00000514471.1:n.53+66_53+68dup
ENST00000699603.1:n.203_205dup
ENST00000699604.1:c.53+66_53+68dup	ENSP00000514472.1:n.53+66_53+68dup
ENST00000699605.1:c.-300+66_-300+68dup	ENSP00000514473.1:n.-300+66_-300+68dup
ENST00000446805.2:c.-191+519_-191+521dup	ENSP00000417012.1:n.-191+519_-191+521dup
ENST00000692802.1:n.123+66_123+68dup
ENST00000693465.1:n.123+66_123+68dup
ENST00000693480.1:n.123+66_123+68dup
ENST00000003084.11:c.53+66_53+68dup MANE Select	ENSP00000003084.6:n.53+66_53+68dup
ENST00000647639.1:n.137+66_137+68dup
ENST00000647978.1:c.53+66_53+68dup	ENSP00000497658.1:n.53+66_53+68dup
ENST00000648260.1:c.53+66_53+68dup	ENSP00000497957.1:n.53+66_53+68dup
ENST00000649406.1:c.53+66_53+68dup	ENSP00000497965.1:n.53+66_53+68dup
ENST00000649781.1:c.53+66_53+68dup	ENSP00000497203.1:n.53+66_53+68dup
ENST00000649850.1:n.136+66_136+68dup
ENST00000673785.1:c.-406+14382_-406+14384dup	ENSP00000501235.1:n.-406+14382_-406+14384dup
ENST00000003084.10:c.53+66_53+68dup	ENSP00000003084.6:n.53+66_53+68dup
ENST00000426809.5:c.53+66_53+68dup	ENSP00000389119.1:n.53+66_53+68dup
ENST00000446805.1:c.-191+519_-191+521dup	ENSP00000417012.1:n.-191+519_-191+521dup
ENST00000546407.1:n.166+4405_166+4407dup
NM_000492.3:c.53+66_53+68dup , LRG_663t1:c.53+66_53+68dup	NP_000483.3:n.53+66_53+68dup
XM_011515751.1:c.143+868_143+870dup	XP_011514053.1:n.143+868_143+870dup
XM_011515752.1:c.143+868_143+870dup	XP_011514054.1:n.143+868_143+870dup
XM_011515753.1:c.-191+519_-191+521dup	XP_011514055.1:n.-191+519_-191+521dup
XM_011515754.1:c.-453_-451dup	XP_011514056.1:n.-453_-451dup
NM_000492.4:c.53+66_53+68dup MANE Select	NP_000483.3:n.53+66_53+68dup