Canonical Allele Identifier: CA1000721946

Gene:

Linked Data

• dbSNP Id: rs1642017001
• gnomAD v3: 1-38158554-C-T
• gnomAD v4: 1-38158554-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158554C>T , CM000663.2:g.38158554C>T	GRCh38
NC_000001.10:g.38624226C>T , CM000663.1:g.38624226C>T	GRCh37
NC_000001.9:g.38396813C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.45-3139C>T
XR_947203.1:n.61+16840C>T
XR_947204.1:n.45-3139C>T
XR_947205.1:n.45-3139C>T
XR_001737984.1:n.45-3139C>T
XR_001737985.1:n.61+16840C>T
XR_001737986.1:n.45-3139C>T
XR_001737987.1:n.45-3139C>T
XR_002958294.1:n.45-3139C>T
XR_947205.2:n.45-3139C>T