Canonical Allele Identifier: CA96826339

Gene:

Linked Data

• dbSNP Id: rs1135534
• gnomAD v2: 4-55094515-C-A
• gnomAD v3: 4-54228348-C-A
• gnomAD v4: 4-54228348-C-A
• MyVariant Identifiers: chr4:g.55094515C>A (hg19) ; chr4:g.54228348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228348C>A , CM000666.2:g.54228348C>A	GRCh38
NC_000004.11:g.55094515C>A , CM000666.1:g.55094515C>A	GRCh37
NC_000004.10:g.54789272C>A	NCBI36
NG_009250.1:g.4252C>A , LRG_309:g.4252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46577C>A	ENSP00000423325.1:n.1018-46577C>A