Canonical Allele Identifier: CA2684616688
Gene: CFTR HGNC NCBI

Linked Data

gnomAD v4: 7-117479731-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479731A>G , CM000669.2:g.117479731A>G GRCh38
NC_000007.13:g.117119785A>G , CM000669.1:g.117119785A>G GRCh37
NC_000007.12:g.116907021A>G NCBI36
NG_016465.4:g.18948A>G , LRG_663:g.18948A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+37A>G ENSP00000417012.1:n.-191+37A>G
ENST00000673785.1:c.-406+13900A>G ENSP00000501235.1:n.-406+13900A>G
ENST00000446805.1:c.-191+37A>G ENSP00000417012.1:n.-191+37A>G
ENST00000546407.1:n.166+3923A>G
XM_011515751.1:c.143+386A>G XP_011514053.1:n.143+386A>G
XM_011515752.1:c.143+386A>G XP_011514054.1:n.143+386A>G
XM_011515753.1:c.-191+37A>G XP_011514055.1:n.-191+37A>G
XM_011515754.1:c.-519+37A>G XP_011514056.1:n.-519+37A>G
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