Canonical Allele Identifier: CA552533442

Gene:

Linked Data

• dbSNP Id: rs1183053290
• gnomAD v2: 4-75419841-G-A
• gnomAD v3: 4-74554124-G-A
• gnomAD v4: 4-74554124-G-A
• MyVariant Identifiers: chr4:g.75419841G>A (hg19) ; chr4:g.74554124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554124G>A , CM000666.2:g.74554124G>A	GRCh38
NC_000004.11:g.75419841G>A , CM000666.1:g.75419841G>A	GRCh37
NC_000004.10:g.75638705G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1292C>T