Canonical Allele Identifier: CA417225486

Gene:

Linked Data

• dbSNP Id: rs1336921350
• MyVariant Identifiers: chr1:g.38624063A>C (hg19) ; chr1:g.38158391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158391A>C , CM000663.2:g.38158391A>C	GRCh38
NC_000001.10:g.38624063A>C , CM000663.1:g.38624063A>C	GRCh37
NC_000001.9:g.38396650A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.45-3302A>C
XR_947203.1:n.61+16677A>C
XR_947204.1:n.45-3302A>C
XR_947205.1:n.45-3302A>C
XR_001737984.1:n.45-3302A>C
XR_001737985.1:n.61+16677A>C
XR_001737986.1:n.45-3302A>C
XR_001737987.1:n.45-3302A>C
XR_002958294.1:n.45-3302A>C
XR_947205.2:n.45-3302A>C