Canonical Allele Identifier: CA1092248769

Gene:

Linked Data

• dbSNP Id: rs1772155584
• gnomAD v3: 6-98014466-A-C
• gnomAD v4: 6-98014466-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98014466A>C , CM000668.2:g.98014466A>C	GRCh38
NC_000006.11:g.98462342A>C , CM000668.1:g.98462342A>C	GRCh37
NC_000006.10:g.98569063A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245563.2:n.371+45000A>C
XR_942809.1:n.371+45000A>C