Canonical Allele Identifier: CA13449343
Gene:

Linked Data

dbSNP Id: rs1290349

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166831C>A , CM000673.2:g.112166831C>A GRCh38
NC_000011.9:g.112037554C>A , CM000673.1:g.112037554C>A GRCh37
NC_000011.8:g.111542764C>A NCBI36
NG_028143.1:g.2287G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-3588C>A
ENST00000531744.5:c.315-3588C>A ENSP00000456957.1:n.315-3588C>A
ENST00000532699.1:c.315-3588C>A ENSP00000456434.1:n.315-3588C>A