Canonical Allele Identifier: CA046653

Gene: APC

Linked Data

• ClinVar Variation Id: 418637
• ClinVar RCV Id: RCV000485956 ; RCV000582404 ; RCV003651918 ; RCV004002263
• dbSNP Id: rs748940586
• ExAC: 5:112178309 A / C
• gnomAD v2: 5-112178309-A-C
• gnomAD v3: 5-112842612-A-C
• gnomAD v4: 5-112842612-A-C
• MyVariant Identifiers: chr5:g.112178309A>C (hg19) ; chr5:g.112842612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842612A>C , CM000667.2:g.112842612A>C	GRCh38
NC_000005.9:g.112178309A>C , CM000667.1:g.112178309A>C	GRCh37
NC_000005.8:g.112206208A>C	NCBI36
NG_008481.4:g.155092A>C , LRG_130:g.155092A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7072A>C	ENSP00000473355.2:p.Asn2358His
ENST00000505350.2:c.*7024A>C	ENSP00000481752.1:n.*7024A>C
ENST00000507379.6:c.6964A>C	ENSP00000423224.2:p.Asn2322His
ENST00000509732.6:c.7018A>C	ENSP00000426541.2:p.Asn2340His
ENST00000512211.7:c.7018A>C	ENSP00000423828.3:p.Asn2340His
ENST00000257430.9:c.7018A>C MANE Select	ENSP00000257430.4:p.Asn2340His
ENST00000257430.8:c.7018A>C	ENSP00000257430.4:p.Asn2340His
ENST00000508376.6:c.7018A>C	ENSP00000427089.2:p.Asn2340His
ENST00000508624.5:c.*6340A>C	ENSP00000424265.1:n.*6340A>C
ENST00000520401.1:c.230+13640A>C
NM_000038.5:c.7018A>C	NP_000029.2:p.Asn2340His
NM_001127510.2:c.7018A>C	NP_001120982.1:p.Asn2340His
NM_001127511.2:c.6964A>C	NP_001120983.2:p.Asn2322His
NM_001354895.1:c.7018A>C	NP_001341824.1:p.Asn2340His
NM_001354896.1:c.7072A>C	NP_001341825.1:p.Asn2358His
NM_001354897.1:c.7048A>C	NP_001341826.1:p.Asn2350His
NM_001354898.1:c.6943A>C	NP_001341827.1:p.Asn2315His
NM_001354899.1:c.6934A>C	NP_001341828.1:p.Asn2312His
NM_001354900.1:c.6895A>C	NP_001341829.1:p.Asn2299His
NM_001354901.1:c.6841A>C	NP_001341830.1:p.Asn2281His
NM_001354902.1:c.6745A>C	NP_001341831.1:p.Asn2249His
NM_001354903.1:c.6715A>C	NP_001341832.1:p.Asn2239His
NM_001354904.1:c.6640A>C	NP_001341833.1:p.Asn2214His
NM_001354905.1:c.6538A>C	NP_001341834.1:p.Asn2180His
NM_001354906.1:c.6169A>C	NP_001341835.1:p.Asn2057His
NM_000038.6:c.7018A>C MANE Select	NP_000029.2:p.Asn2340His
NM_001127510.3:c.7018A>C	NP_001120982.1:p.Asn2340His
NM_001127511.3:c.6964A>C	NP_001120983.2:p.Asn2322His
NM_001354895.2:c.7018A>C	NP_001341824.1:p.Asn2340His
NM_001354896.2:c.7072A>C	NP_001341825.1:p.Asn2358His
NM_001354897.2:c.7048A>C	NP_001341826.1:p.Asn2350His
NM_001354898.2:c.6943A>C	NP_001341827.1:p.Asn2315His
NM_001354899.2:c.6934A>C	NP_001341828.1:p.Asn2312His
NM_001354900.2:c.6895A>C	NP_001341829.1:p.Asn2299His
NM_001354901.2:c.6841A>C	NP_001341830.1:p.Asn2281His
NM_001354902.2:c.6745A>C	NP_001341831.1:p.Asn2249His
NM_001354903.2:c.6715A>C	NP_001341832.1:p.Asn2239His
NM_001354904.2:c.6640A>C	NP_001341833.1:p.Asn2214His
NM_001354905.2:c.6538A>C	NP_001341834.1:p.Asn2180His
NM_001354906.2:c.6169A>C	NP_001341835.1:p.Asn2057His