Canonical Allele Identifier: CA837538638

Gene:

Linked Data

• dbSNP Id: rs1424799276
• MyVariant Identifiers: chr7:g.30937024T>C (hg19) ; chr7:g.30897409T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897409T>C , CM000669.2:g.30897409T>C	GRCh38
NC_000007.13:g.30937024T>C , CM000669.1:g.30937024T>C	GRCh37
NC_000007.12:g.30903549T>C	NCBI36
NG_007475.2:g.49016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.621+14416T>C