Canonical Allele Identifier: CA422484555

Gene:

Linked Data

• dbSNP Id: rs1571640297
• gnomAD v4: 1-192800628-T-G
• MyVariant Identifiers: chr1:g.192769758T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800628T>G , CM000663.2:g.192800628T>G	GRCh38
NC_000001.10:g.192769758T>G , CM000663.1:g.192769758T>G	GRCh37
NC_000001.9:g.191036381T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.58T>G