Canonical Allele Identifier: CA551358259

Gene:

Linked Data

• dbSNP Id: rs1328627802
• gnomAD v2: 4-55094717-A-C
• gnomAD v3: 4-54228550-A-C
• gnomAD v4: 4-54228550-A-C
• MyVariant Identifiers: chr4:g.55094717A>C (hg19) ; chr4:g.54228550A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228550A>C , CM000666.2:g.54228550A>C	GRCh38
NC_000004.11:g.55094717A>C , CM000666.1:g.55094717A>C	GRCh37
NC_000004.10:g.54789474A>C	NCBI36
NG_009250.1:g.4454A>C , LRG_309:g.4454A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46375A>C	ENSP00000423325.1:n.1018-46375A>C