Canonical Allele Identifier: CA796293822

Gene:

Linked Data

• dbSNP Id: rs1224609364
• gnomAD v3: 4-54072403-C-T
• gnomAD v4: 4-54072403-C-T
• MyVariant Identifiers: chr4:g.54938570C>T (hg19) ; chr4:g.54072403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072403C>T , CM000666.2:g.54072403C>T	GRCh38
NC_000004.11:g.54938570C>T , CM000666.1:g.54938570C>T	GRCh37
NC_000004.10:g.54633327C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202522C>T	ENSP00000423325.1:n.1018-202522C>T