Canonical Allele Identifier: CA156111424

Gene:

Linked Data

• dbSNP Id: rs766430258
• MyVariant Identifiers: chr7:g.30951071C>A (hg19) ; chr7:g.30911456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911456C>A , CM000669.2:g.30911456C>A	GRCh38
NC_000007.13:g.30951071C>A , CM000669.1:g.30951071C>A	GRCh37
NC_000007.12:g.30917596C>A	NCBI36
NG_007475.2:g.63063C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-537C>A