Canonical Allele Identifier: CA237770569

Gene: INHBC

Linked Data

• dbSNP Id: rs140444446
• gnomAD v2: 12-57843949-C-G
• gnomAD v3: 12-57450166-C-G
• gnomAD v4: 12-57450166-C-G
• MyVariant Identifiers: chr12:g.57843949C>G (hg19) ; chr12:g.57450166C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57450166C>G , CM000674.2:g.57450166C>G	GRCh38
NC_000012.11:g.57843949C>G , CM000674.1:g.57843949C>G	GRCh37
NC_000012.10:g.56130216C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309668.3:c.*144C>G MANE Select	ENSP00000308716.2:n.*144C>G
ENST00000309668.2:c.*144C>G	ENSP00000308716.2:n.*144C>G
NM_005538.3:c.*144C>G	NP_005529.1:n.*144C>G
NM_005538.4:c.*144C>G MANE Select	NP_005529.1:n.*144C>G