Canonical Allele Identifier: CA552533437

Gene:

Linked Data

• dbSNP Id: rs1195951238
• gnomAD v2: 4-75419718-T-C
• gnomAD v3: 4-74554001-T-C
• gnomAD v4: 4-74554001-T-C
• MyVariant Identifiers: chr4:g.75419718T>C (hg19) ; chr4:g.74554001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554001T>C , CM000666.2:g.74554001T>C	GRCh38
NC_000004.11:g.75419718T>C , CM000666.1:g.75419718T>C	GRCh37
NC_000004.10:g.75638582T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741513.1:n.167-1169A>G