Canonical Allele Identifier: CA1737343542
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1584763707
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478917G>A , CM000669.2:g.117478917G>A GRCh38
NC_000007.13:g.117118971G>A , CM000669.1:g.117118971G>A GRCh37
NC_000007.12:g.116906207G>A NCBI36
NG_016465.4:g.18134G>A , LRG_663:g.18134G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-525-327G>A ENSP00000417012.1:n.-525-327G>A
ENST00000673785.1:c.-406+13086G>A ENSP00000501235.1:n.-406+13086G>A
ENST00000546407.1:n.166+3109G>A
XM_011515751.1:c.42-327G>A XP_011514053.1:n.42-327G>A
XM_011515752.1:c.42-327G>A XP_011514054.1:n.42-327G>A
XM_011515754.1:c.-1180G>A XP_011514056.1:n.-1180G>A
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