Canonical Allele Identifier: CA552533450

Gene:

Linked Data

• dbSNP Id: rs1407006610
• gnomAD v2: 4-75419933-A-C
• gnomAD v3: 4-74554216-A-C
• gnomAD v4: 4-74554216-A-C
• MyVariant Identifiers: chr4:g.75419933A>C (hg19) ; chr4:g.74554216A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554216A>C , CM000666.2:g.74554216A>C	GRCh38
NC_000004.11:g.75419933A>C , CM000666.1:g.75419933A>C	GRCh37
NC_000004.10:g.75638797A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1384T>G