Canonical Allele Identifier: CA10726382

Gene:

Linked Data

• dbSNP Id: rs12409517
• gnomAD v2: 1-56898174-G-T
• gnomAD v3: 1-56432502-G-T
• gnomAD v4: 1-56432502-G-T
• MyVariant Identifiers: chr1:g.56898174G>T (hg19) ; chr1:g.56432502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56432502G>T , CM000663.2:g.56432502G>T	GRCh38
NC_000001.10:g.56898174G>T , CM000663.1:g.56898174G>T	GRCh37
NC_000001.9:g.56670762G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641109.1:c.759+46384C>A	ENSP00000493138.1:n.759+46384C>A
ENST00000641346.1:c.193-32235C>A
ENST00000641415.1:c.192+50761C>A
ENST00000641494.1:c.378+50761C>A
ENST00000642129.1:c.768+50761C>A