Canonical Allele Identifier: CA164949128

Gene: CFTR

Linked Data

• dbSNP Id: rs181910285
• gnomAD v3: 7-117480325-T-C
• gnomAD v4: 7-117480325-T-C
• MyVariant Identifiers: chr7:g.117120379T>C (hg19) ; chr7:g.117480325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480325T>C , CM000669.2:g.117480325T>C	GRCh38
NC_000007.13:g.117120379T>C , CM000669.1:g.117120379T>C	GRCh37
NC_000007.12:g.116907615T>C	NCBI36
NG_016465.4:g.19542T>C , LRG_663:g.19542T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.53+178T>C	ENSP00000497673.2:n.53+178T>C
ENST00000647978.2:c.53+178T>C	ENSP00000497658.1:n.53+178T>C
ENST00000649781.2:c.53+178T>C	ENSP00000497203.1:n.53+178T>C
ENST00000649850.2:c.53+178T>C	ENSP00000514457.1:n.53+178T>C
ENST00000685018.2:c.53+178T>C	ENSP00000510194.2:n.53+178T>C
ENST00000687278.2:c.53+178T>C	ENSP00000509593.2:n.53+178T>C
ENST00000692802.2:n.165T>C
ENST00000693465.2:n.138+178T>C
ENST00000693480.2:n.137+178T>C
ENST00000699585.1:c.53+178T>C	ENSP00000514456.1:n.53+178T>C
ENST00000699596.1:c.53+178T>C	ENSP00000514465.1:n.53+178T>C
ENST00000699597.1:c.53+178T>C	ENSP00000514466.1:n.53+178T>C
ENST00000699598.1:c.53+178T>C	ENSP00000514467.1:n.53+178T>C
ENST00000699599.1:c.53+178T>C	ENSP00000514468.1:n.53+178T>C
ENST00000699600.1:c.53+178T>C	ENSP00000514469.1:n.53+178T>C
ENST00000699601.1:c.53+178T>C	ENSP00000514470.1:n.53+178T>C
ENST00000699602.1:c.53+178T>C	ENSP00000514471.1:n.53+178T>C
ENST00000699603.1:n.315T>C
ENST00000699604.1:c.53+178T>C	ENSP00000514472.1:n.53+178T>C
ENST00000699605.1:c.-300+178T>C	ENSP00000514473.1:n.-300+178T>C
ENST00000446805.2:c.-191+631T>C	ENSP00000417012.1:n.-191+631T>C
ENST00000692802.1:n.151T>C
ENST00000693465.1:n.123+178T>C
ENST00000693480.1:n.123+178T>C
ENST00000003084.11:c.53+178T>C MANE Select	ENSP00000003084.6:n.53+178T>C
ENST00000647639.1:n.137+178T>C
ENST00000647978.1:c.53+178T>C	ENSP00000497658.1:n.53+178T>C
ENST00000648260.1:c.53+178T>C	ENSP00000497957.1:n.53+178T>C
ENST00000649406.1:c.53+178T>C	ENSP00000497965.1:n.53+178T>C
ENST00000649781.1:c.53+178T>C	ENSP00000497203.1:n.53+178T>C
ENST00000649850.1:n.136+178T>C
ENST00000673785.1:c.-406+14494T>C	ENSP00000501235.1:n.-406+14494T>C
ENST00000003084.10:c.53+178T>C	ENSP00000003084.6:n.53+178T>C
ENST00000426809.5:c.53+178T>C	ENSP00000389119.1:n.53+178T>C
ENST00000446805.1:c.-191+631T>C	ENSP00000417012.1:n.-191+631T>C
ENST00000546407.1:n.166+4517T>C
NM_000492.3:c.53+178T>C , LRG_663t1:c.53+178T>C	NP_000483.3:n.53+178T>C
XM_011515751.1:c.143+980T>C	XP_011514053.1:n.143+980T>C
XM_011515752.1:c.143+980T>C	XP_011514054.1:n.143+980T>C
XM_011515753.1:c.-191+631T>C	XP_011514055.1:n.-191+631T>C
XM_011515754.1:c.-341T>C	XP_011514056.1:n.-341T>C
NM_000492.4:c.53+178T>C MANE Select	NP_000483.3:n.53+178T>C