Canonical Allele Identifier: CA573583319

Gene:

Linked Data

• dbSNP Id: rs1453327042
• gnomAD v2: 7-26645350-T-C
• gnomAD v3: 7-26605731-T-C
• gnomAD v4: 7-26605731-T-C
• MyVariant Identifiers: chr7:g.26645350T>C (hg19) ; chr7:g.26605731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26605731T>C , CM000669.2:g.26605731T>C	GRCh38
NC_000007.13:g.26645350T>C , CM000669.1:g.26645350T>C	GRCh37
NC_000007.12:g.26611875T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927131.1:n.1118-6361A>G
XR_927131.2:n.1186-6361A>G