Canonical Allele Identifier: CA97374101

Gene:

Linked Data

• dbSNP Id: rs1028922874
• gnomAD v3: 4-54072440-A-T
• gnomAD v4: 4-54072440-A-T
• MyVariant Identifiers: chr4:g.54938607A>T (hg19) ; chr4:g.54072440A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072440A>T , CM000666.2:g.54072440A>T	GRCh38
NC_000004.11:g.54938607A>T , CM000666.1:g.54938607A>T	GRCh37
NC_000004.10:g.54633364A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202485A>T	ENSP00000423325.1:n.1018-202485A>T