Canonical Allele Identifier: CA36798987

Gene:

Linked Data

• dbSNP Id: rs994795019
• MyVariant Identifiers: chr1:g.211553056T>C (hg19) ; chr1:g.211379714T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379714T>C , CM000663.2:g.211379714T>C	GRCh38
NC_000001.10:g.211553056T>C , CM000663.1:g.211553056T>C	GRCh37
NC_000001.9:g.209619679T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738446.1:n.291+2481A>G