Canonical Allele Identifier: CA688740720

Gene:

Linked Data

• dbSNP Id: rs1177230681
• gnomAD v3: 12-40373500-G-T
• gnomAD v4: 12-40373500-G-T
• MyVariant Identifiers: chr12:g.40767302G>T (hg19) ; chr12:g.40373500G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40373500G>T , CM000674.2:g.40373500G>T	GRCh38
NC_000012.11:g.40767302G>T , CM000674.1:g.40767302G>T	GRCh37
NC_000012.10:g.39053569G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_944868.1:n.485-18673C>A
XR_944869.1:n.485-1448C>A
XR_001749087.1:n.380-1448C>A
XR_001749088.1:n.347-1448C>A
XR_944868.2:n.485-18673C>A
XR_944869.2:n.485-1448C>A