Canonical Allele Identifier: CA2684616310

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479321-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479321T>C , CM000669.2:g.117479321T>C	GRCh38
NC_000007.13:g.117119375T>C , CM000669.1:g.117119375T>C	GRCh37
NC_000007.12:g.116906611T>C	NCBI36
NG_016465.4:g.18538T>C , LRG_663:g.18538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-448T>C	ENSP00000417012.1:n.-448T>C
ENST00000673785.1:c.-406+13490T>C	ENSP00000501235.1:n.-406+13490T>C
ENST00000446805.1:c.-448T>C	ENSP00000417012.1:n.-448T>C
ENST00000546407.1:n.166+3513T>C
XM_011515751.1:c.119T>C	XP_011514053.1:p.Leu40Pro
XM_011515752.1:c.119T>C	XP_011514054.1:p.Leu40Pro
XM_011515753.1:c.-448T>C	XP_011514055.1:n.-448T>C
XM_011515754.1:c.-776T>C	XP_011514056.1:n.-776T>C