Canonical Allele Identifier: CA1028182256

Gene:

Linked Data

• dbSNP Id: rs1691637118
• gnomAD v3: 2-20485768-G-C
• gnomAD v4: 2-20485768-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485768G>C , CM000664.2:g.20485768G>C	GRCh38
NC_000002.11:g.20685529G>C , CM000664.1:g.20685529G>C	GRCh37
NC_000002.10:g.20549010G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+2970C>G