Canonical Allele Identifier: CA92831163

Gene:

Linked Data

• dbSNP Id: rs976141574
• gnomAD v3: 4-11502021-C-G
• gnomAD v4: 4-11502021-C-G
• MyVariant Identifiers: chr4:g.11503645C>G (hg19) ; chr4:g.11502021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.11502021C>G , CM000666.2:g.11502021C>G	GRCh38
NC_000004.11:g.11503645C>G , CM000666.1:g.11503645C>G	GRCh37
NC_000004.10:g.11112743C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741361.1:n.950+19175C>G