Canonical Allele Identifier: CA97374083

Gene:

Linked Data

• dbSNP Id: rs573463354
• gnomAD v2: 4-54938448-G-A
• gnomAD v3: 4-54072281-G-A
• gnomAD v4: 4-54072281-G-A
• MyVariant Identifiers: chr4:g.54938448G>A (hg19) ; chr4:g.54072281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072281G>A , CM000666.2:g.54072281G>A	GRCh38
NC_000004.11:g.54938448G>A , CM000666.1:g.54938448G>A	GRCh37
NC_000004.10:g.54633205G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202644G>A	ENSP00000423325.1:n.1018-202644G>A