Canonical Allele Identifier: CA175266

Gene: ASCL1

Linked Data

• ClinVar Variation Id: 162758
• ClinVar RCV Id: RCV000150166 ; RCV001723709
• dbSNP Id: rs731682
• ExAC: 12:103352649 C / G
• gnomAD v2: 12-103352649-C-G
• gnomAD v3: 12-102958871-C-G
• gnomAD v4: 12-102958871-C-G
• MyVariant Identifiers: chr12:g.103352649C>G (hg19) ; chr12:g.102958871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102958871C>G , CM000674.2:g.102958871C>G	GRCh38
NC_000012.11:g.103352649C>G , CM000674.1:g.103352649C>G	GRCh37
NC_000012.10:g.101876779C>G	NCBI36
NG_008950.1:g.6198C>G
NG_008690.2:g.4540G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266744.4:c.627C>G MANE Select	ENSP00000266744.3:p.Val209=
ENST00000266744.3:c.627C>G	ENSP00000266744.3:p.Val209=
NM_004316.3:c.627C>G	NP_004307.2:p.Val209=
NM_004316.4:c.627C>G MANE Select	NP_004307.2:p.Val209=