Canonical Allele Identifier: CA21326466

Gene:

Linked Data

• dbSNP Id: rs375795982
• gnomAD v2: 1-38624218-C-T
• gnomAD v3: 1-38158546-C-T
• gnomAD v4: 1-38158546-C-T
• MyVariant Identifiers: chr1:g.38624218C>T (hg19) ; chr1:g.38158546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158546C>T , CM000663.2:g.38158546C>T	GRCh38
NC_000001.10:g.38624218C>T , CM000663.1:g.38624218C>T	GRCh37
NC_000001.9:g.38396805C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.45-3147C>T
XR_947203.1:n.61+16832C>T
XR_947204.1:n.45-3147C>T
XR_947205.1:n.45-3147C>T
XR_001737984.1:n.45-3147C>T
XR_001737985.1:n.61+16832C>T
XR_001737986.1:n.45-3147C>T
XR_001737987.1:n.45-3147C>T
XR_002958294.1:n.45-3147C>T
XR_947205.2:n.45-3147C>T