Canonical Allele Identifier: CA2684616741
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs2116603612
gnomAD v4: 7-117479768-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479768G>T , CM000669.2:g.117479768G>T GRCh38
NC_000007.13:g.117119822G>T , CM000669.1:g.117119822G>T GRCh37
NC_000007.12:g.116907058G>T NCBI36
NG_016465.4:g.18985G>T , LRG_663:g.18985G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-191+74G>T ENSP00000417012.1:n.-191+74G>T
ENST00000673785.1:c.-406+13937G>T ENSP00000501235.1:n.-406+13937G>T
ENST00000446805.1:c.-191+74G>T ENSP00000417012.1:n.-191+74G>T
ENST00000546407.1:n.166+3960G>T
XM_011515751.1:c.143+423G>T XP_011514053.1:n.143+423G>T
XM_011515752.1:c.143+423G>T XP_011514054.1:n.143+423G>T
XM_011515753.1:c.-191+74G>T XP_011514055.1:n.-191+74G>T
XM_011515754.1:c.-519+74G>T XP_011514056.1:n.-519+74G>T
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