Canonical Allele Identifier: CA1737343339
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797927571
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478705A>T , CM000669.2:g.117478705A>T GRCh38
NC_000007.13:g.117118759A>T , CM000669.1:g.117118759A>T GRCh37
NC_000007.12:g.116905995A>T NCBI36
NG_016465.4:g.17922A>T , LRG_663:g.17922A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+283A>T ENSP00000417012.1:n.-526+283A>T
ENST00000673785.1:c.-406+12874A>T ENSP00000501235.1:n.-406+12874A>T
ENST00000546407.1:n.166+2897A>T
XM_011515751.1:c.41+283A>T XP_011514053.1:n.41+283A>T
XM_011515752.1:c.41+283A>T XP_011514054.1:n.41+283A>T
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