Canonical Allele Identifier: CA460228733

Gene:

Linked Data

• gnomAD v4: 8-31176776-G-C
• MyVariant Identifiers: chr8:g.31034292G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31176776G>C , CM000670.2:g.31176776G>C	GRCh38
NC_000008.10:g.31034292G>C , CM000670.1:g.31034292G>C	GRCh37
NC_000008.9:g.31153834G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949642.1:n.305G>C
XR_949643.1:n.3C>G
XR_949644.1:n.3C>G
XR_949645.1:n.3C>G
XR_949646.1:n.3C>G
XR_949647.1:n.616C>G
XR_949648.1:n.518C>G