Canonical Allele Identifier: CA552533443

Gene:

Linked Data

• dbSNP Id: rs1264874170
• gnomAD v2: 4-75419847-A-C
• MyVariant Identifiers: chr4:g.75419847A>C (hg19) ; chr4:g.74554130A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554130A>C , CM000666.2:g.74554130A>C	GRCh38
NC_000004.11:g.75419847A>C , CM000666.1:g.75419847A>C	GRCh37
NC_000004.10:g.75638711A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1298T>G