Canonical Allele Identifier: CA729343655
Gene:

Linked Data

dbSNP Id: rs1437636571
gnomAD v3: 1-193121713-A-C
gnomAD v4: 1-193121713-A-C
MyVariant Identifiers: chr1:g.193090843A>C (hg19) chr1:g.193121713A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121713A>C , CM000663.2:g.193121713A>C GRCh38
NC_000001.10:g.193090843A>C , CM000663.1:g.193090843A>C GRCh37
NC_000001.9:g.191357466A>C NCBI36
NG_012691.1:g.4756A>C , LRG_507:g.4756A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1944T>G
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