Canonical Allele Identifier: CA573460469

Gene:

Linked Data

• dbSNP Id: rs1378530786
• gnomAD v2: 7-30937264-A-C
• gnomAD v3: 7-30897649-A-C
• gnomAD v4: 7-30897649-A-C
• MyVariant Identifiers: chr7:g.30937264A>C (hg19) ; chr7:g.30897649A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897649A>C , CM000669.2:g.30897649A>C	GRCh38
NC_000007.13:g.30937264A>C , CM000669.1:g.30937264A>C	GRCh37
NC_000007.12:g.30903789A>C	NCBI36
NG_007475.2:g.49256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.622-14344A>C