Canonical Allele Identifier: CA2684616803
Gene: CFTR HGNC NCBI

Linked Data

gnomAD v4: 7-117479810-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479810A>G , CM000669.2:g.117479810A>G GRCh38
NC_000007.13:g.117119864A>G , CM000669.1:g.117119864A>G GRCh37
NC_000007.12:g.116907100A>G NCBI36
NG_016465.4:g.19027A>G , LRG_663:g.19027A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+116A>G ENSP00000417012.1:n.-191+116A>G
ENST00000673785.1:c.-406+13979A>G ENSP00000501235.1:n.-406+13979A>G
ENST00000446805.1:c.-191+116A>G ENSP00000417012.1:n.-191+116A>G
ENST00000546407.1:n.166+4002A>G
XM_011515751.1:c.143+465A>G XP_011514053.1:n.143+465A>G
XM_011515752.1:c.143+465A>G XP_011514054.1:n.143+465A>G
XM_011515753.1:c.-191+116A>G XP_011514055.1:n.-191+116A>G
XM_011515754.1:c.-519+116A>G XP_011514056.1:n.-519+116A>G
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