Canonical Allele Identifier: CA21326458

Gene:

Linked Data

• dbSNP Id: rs1055988429
• gnomAD v3: 1-38158508-G-T
• gnomAD v4: 1-38158508-G-T
• MyVariant Identifiers: chr1:g.38624180G>T (hg19) ; chr1:g.38158508G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158508G>T , CM000663.2:g.38158508G>T	GRCh38
NC_000001.10:g.38624180G>T , CM000663.1:g.38624180G>T	GRCh37
NC_000001.9:g.38396767G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.45-3185G>T
XR_947203.1:n.61+16794G>T
XR_947204.1:n.45-3185G>T
XR_947205.1:n.45-3185G>T
XR_001737984.1:n.45-3185G>T
XR_001737985.1:n.61+16794G>T
XR_001737986.1:n.45-3185G>T
XR_001737987.1:n.45-3185G>T
XR_002958294.1:n.45-3185G>T
XR_947205.2:n.45-3185G>T