Canonical Allele Identifier: CA621196511

Gene:

Linked Data

• dbSNP Id: rs1384928653
• gnomAD v2: 16-16237755-C-G
• MyVariant Identifiers: chr16:g.16237755C>G (hg19) ; chr16:g.16143898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16143898C>G , CM000678.2:g.16143898C>G	GRCh38
NC_000016.9:g.16237755C>G , CM000678.1:g.16237755C>G	GRCh37
NC_000016.8:g.16145256C>G	NCBI36
NG_028268.1:g.199322C>G
NG_028268.2:g.199322C>G

Transcript Alleles

HGVS	Amino-acid change
XR_933134.1:n.146C>G