Canonical Allele Identifier: CA1737344070
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs984913357
gnomAD v4: 7-117479620-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479620C>T , CM000669.2:g.117479620C>T GRCh38
NC_000007.13:g.117119674C>T , CM000669.1:g.117119674C>T GRCh37
NC_000007.12:g.116906910C>T NCBI36
NG_016465.4:g.18837C>T , LRG_663:g.18837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-265C>T ENSP00000417012.1:n.-265C>T
ENST00000673785.1:c.-406+13789C>T ENSP00000501235.1:n.-406+13789C>T
ENST00000446805.1:c.-265C>T ENSP00000417012.1:n.-265C>T
ENST00000546407.1:n.166+3812C>T
XM_011515751.1:c.143+275C>T XP_011514053.1:n.143+275C>T
XM_011515752.1:c.143+275C>T XP_011514054.1:n.143+275C>T
XM_011515753.1:c.-265C>T XP_011514055.1:n.-265C>T
XM_011515754.1:c.-593C>T XP_011514056.1:n.-593C>T
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