Canonical Allele Identifier: CA2684616288

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479273-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479273T>C , CM000669.2:g.117479273T>C	GRCh38
NC_000007.13:g.117119327T>C , CM000669.1:g.117119327T>C	GRCh37
NC_000007.12:g.116906563T>C	NCBI36
NG_016465.4:g.18490T>C , LRG_663:g.18490T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-496T>C	ENSP00000417012.1:n.-496T>C
ENST00000673785.1:c.-406+13442T>C	ENSP00000501235.1:n.-406+13442T>C
ENST00000546407.1:n.166+3465T>C
XM_011515751.1:c.71T>C	XP_011514053.1:p.Leu24Ser
XM_011515752.1:c.71T>C	XP_011514054.1:p.Leu24Ser
XM_011515754.1:c.-824T>C	XP_011514056.1:n.-824T>C