Canonical Allele Identifier: CA34407208

Gene:

Linked Data

• dbSNP Id: rs939715544
• gnomAD v3: 1-193121749-T-G
• gnomAD v4: 1-193121749-T-G
• MyVariant Identifiers: chr1:g.193090879T>G (hg19) ; chr1:g.193121749T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121749T>G , CM000663.2:g.193121749T>G	GRCh38
NC_000001.10:g.193090879T>G , CM000663.1:g.193090879T>G	GRCh37
NC_000001.9:g.191357502T>G	NCBI36
NG_012691.1:g.4792T>G , LRG_507:g.4792T>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1908A>C