Canonical Allele Identifier: CA735541270

Gene:

Linked Data

• dbSNP Id: rs1292236923
• gnomAD v3: 1-38158588-G-A
• gnomAD v4: 1-38158588-G-A
• MyVariant Identifiers: chr1:g.38624260G>A (hg19) ; chr1:g.38158588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158588G>A , CM000663.2:g.38158588G>A	GRCh38
NC_000001.10:g.38624260G>A , CM000663.1:g.38624260G>A	GRCh37
NC_000001.9:g.38396847G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.45-3105G>A
XR_947203.1:n.61+16874G>A
XR_947204.1:n.45-3105G>A
XR_947205.1:n.45-3105G>A
XR_001737984.1:n.45-3105G>A
XR_001737985.1:n.61+16874G>A
XR_001737986.1:n.45-3105G>A
XR_001737987.1:n.45-3105G>A
XR_002958294.1:n.45-3105G>A
XR_947205.2:n.45-3105G>A