Canonical Allele Identifier: CA1573442372

Gene: APC

Linked Data

• ClinVar Variation Id: 1009705
• ClinVar RCV Id: RCV003538662
• dbSNP Id: rs1750568725
• gnomAD v4: 5-112707510-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707510T>C , CM000667.2:g.112707510T>C	GRCh38
NC_000005.9:g.112043207T>C , CM000667.1:g.112043207T>C	GRCh37
NC_000005.8:g.112071106T>C	NCBI36
NG_008481.4:g.19990T>C , LRG_130:g.19990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509732.5:c.-158T>C	ENSP00000426541.1:n.-158T>C
NM_001127511.2:c.-208T>C	NP_001120983.2:n.-208T>C
NM_001354895.1:c.-391T>C	NP_001341824.1:n.-391T>C
NM_001354897.1:c.-208T>C	NP_001341826.1:n.-208T>C
NM_001354902.1:c.-208T>C	NP_001341831.1:n.-208T>C
NM_001127511.3:c.-208T>C	NP_001120983.2:n.-208T>C
NM_001354895.2:c.-391T>C	NP_001341824.1:n.-391T>C
NM_001354897.2:c.-208T>C	NP_001341826.1:n.-208T>C
NM_001354902.2:c.-208T>C	NP_001341831.1:n.-208T>C