Canonical Allele Identifier: CA527707637

Gene:

Linked Data

• dbSNP Id: rs1424836275
• gnomAD v2: 1-193090944-G-T
• gnomAD v3: 1-193121814-G-T
• gnomAD v4: 1-193121814-G-T
• MyVariant Identifiers: chr1:g.193090944G>T (hg19) ; chr1:g.193121814G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121814G>T , CM000663.2:g.193121814G>T	GRCh38
NC_000001.10:g.193090944G>T , CM000663.1:g.193090944G>T	GRCh37
NC_000001.9:g.191357567G>T	NCBI36
NG_012691.1:g.4857G>T , LRG_507:g.4857G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1843C>A