Canonical Allele Identifier: CA796293818

Gene:

Linked Data

• dbSNP Id: rs1195570334
• gnomAD v3: 4-54072378-T-C
• gnomAD v4: 4-54072378-T-C
• MyVariant Identifiers: chr4:g.54938545T>C (hg19) ; chr4:g.54072378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072378T>C , CM000666.2:g.54072378T>C	GRCh38
NC_000004.11:g.54938545T>C , CM000666.1:g.54938545T>C	GRCh37
NC_000004.10:g.54633302T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202547T>C	ENSP00000423325.1:n.1018-202547T>C