Canonical Allele Identifier: CA1000721966

Gene:

Linked Data

• dbSNP Id: rs1292236923
• gnomAD v3: 1-38158588-G-C
• gnomAD v4: 1-38158588-G-C

Genomic Alleles

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

Transcript Alleles

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