Canonical Allele Identifier: CA1737343531
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797933408
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478912C>A , CM000669.2:g.117478912C>A GRCh38
NC_000007.13:g.117118966C>A , CM000669.1:g.117118966C>A GRCh37
NC_000007.12:g.116906202C>A NCBI36
NG_016465.4:g.18129C>A , LRG_663:g.18129C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-525-332C>A ENSP00000417012.1:n.-525-332C>A
ENST00000673785.1:c.-406+13081C>A ENSP00000501235.1:n.-406+13081C>A
ENST00000546407.1:n.166+3104C>A
XM_011515751.1:c.42-332C>A XP_011514053.1:n.42-332C>A
XM_011515752.1:c.42-332C>A XP_011514054.1:n.42-332C>A
XM_011515754.1:c.-1185C>A XP_011514056.1:n.-1185C>A
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