Canonical Allele Identifier: CA551536789

Gene:

Linked Data

• dbSNP Id: rs1220210608
• gnomAD v2: 4-54938610-A-G
• gnomAD v3: 4-54072443-A-G
• gnomAD v4: 4-54072443-A-G
• MyVariant Identifiers: chr4:g.54938610A>G (hg19) ; chr4:g.54072443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072443A>G , CM000666.2:g.54072443A>G	GRCh38
NC_000004.11:g.54938610A>G , CM000666.1:g.54938610A>G	GRCh37
NC_000004.10:g.54633367A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202482A>G	ENSP00000423325.1:n.1018-202482A>G