Canonical Allele Identifier: CA1106300497

Gene: CFTR

Linked Data

• dbSNP Id: rs1797974971
• gnomAD v3: 7-117480029-T-C
• gnomAD v4: 7-117480029-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480029T>C , CM000669.2:g.117480029T>C	GRCh38
NC_000007.13:g.117120083T>C , CM000669.1:g.117120083T>C	GRCh37
NC_000007.12:g.116907319T>C	NCBI36
NG_016465.4:g.19246T>C , LRG_663:g.19246T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.-66T>C	ENSP00000497673.2:n.-66T>C
ENST00000647978.2:c.-66T>C	ENSP00000497658.1:n.-66T>C
ENST00000649781.2:c.-66T>C	ENSP00000497203.1:n.-66T>C
ENST00000649850.2:c.-66T>C	ENSP00000514457.1:n.-66T>C
ENST00000685018.2:c.-66T>C	ENSP00000510194.2:n.-66T>C
ENST00000687278.2:c.-66T>C	ENSP00000509593.2:n.-66T>C
ENST00000692802.2:n.19T>C
ENST00000693465.2:n.20T>C
ENST00000693480.2:n.19T>C
ENST00000699585.1:c.-66T>C	ENSP00000514456.1:n.-66T>C
ENST00000699596.1:c.-66T>C	ENSP00000514465.1:n.-66T>C
ENST00000699597.1:c.-66T>C	ENSP00000514466.1:n.-66T>C
ENST00000699598.1:c.-66T>C	ENSP00000514467.1:n.-66T>C
ENST00000699599.1:c.-66T>C	ENSP00000514468.1:n.-66T>C
ENST00000699600.1:c.-66T>C	ENSP00000514469.1:n.-66T>C
ENST00000699601.1:c.-66T>C	ENSP00000514470.1:n.-66T>C
ENST00000699602.1:c.-66T>C	ENSP00000514471.1:n.-66T>C
ENST00000699603.1:n.19T>C
ENST00000699604.1:c.-66T>C	ENSP00000514472.1:n.-66T>C
ENST00000699605.1:c.-418T>C	ENSP00000514473.1:n.-418T>C
ENST00000446805.2:c.-191+335T>C	ENSP00000417012.1:n.-191+335T>C
ENST00000692802.1:n.5T>C
ENST00000693465.1:n.5T>C
ENST00000693480.1:n.5T>C
ENST00000003084.11:c.-66T>C MANE Select	ENSP00000003084.6:n.-66T>C
ENST00000647639.1:n.19T>C
ENST00000647978.1:c.-66T>C	ENSP00000497658.1:n.-66T>C
ENST00000648260.1:c.-66T>C	ENSP00000497957.1:n.-66T>C
ENST00000649406.1:c.-66T>C	ENSP00000497965.1:n.-66T>C
ENST00000649850.1:n.18T>C
ENST00000673785.1:c.-406+14198T>C	ENSP00000501235.1:n.-406+14198T>C
ENST00000003084.10:c.-66T>C	ENSP00000003084.6:n.-66T>C
ENST00000446805.1:c.-191+335T>C	ENSP00000417012.1:n.-191+335T>C
ENST00000546407.1:n.166+4221T>C
NM_000492.3:c.-66T>C , LRG_663t1:c.-66T>C	NP_000483.3:n.-66T>C
XM_011515751.1:c.143+684T>C	XP_011514053.1:n.143+684T>C
XM_011515752.1:c.143+684T>C	XP_011514054.1:n.143+684T>C
XM_011515753.1:c.-191+335T>C	XP_011514055.1:n.-191+335T>C
XM_011515754.1:c.-518-119T>C	XP_011514056.1:n.-518-119T>C
NM_000492.4:c.-66T>C MANE Select	NP_000483.3:n.-66T>C