Canonical Allele Identifier: CA10854134
Gene:

Linked Data

ClinVar Variation Id: 1177993
ClinVar RCV Id: RCV001534191
dbSNP Id: rs10737621
gnomAD v2: 1-193090865-C-A
gnomAD v3: 1-193121735-C-A
gnomAD v4: 1-193121735-C-A
MyVariant Identifiers: chr1:g.193090865C>A (hg19) chr1:g.193121735C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121735C>A , CM000663.2:g.193121735C>A GRCh38
NC_000001.10:g.193090865C>A , CM000663.1:g.193090865C>A GRCh37
NC_000001.9:g.191357488C>A NCBI36
NG_012691.1:g.4778C>A , LRG_507:g.4778C>A

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1922G>T
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