Canonical Allele Identifier: CA466092032

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95101710-G-A
• MyVariant Identifiers: chr9:g.97863992G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101710G>A , CM000671.2:g.95101710G>A	GRCh38
NC_000009.11:g.97863992G>A , CM000671.1:g.97863992G>A	GRCh37
NC_000009.10:g.96903813G>A	NCBI36
NG_011707.1:g.221000C>T , LRG_497:g.221000C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+20930G>A (AOPEP)
ENST00000696260.1:n.2489C>T (FANCC)
ENST00000289081.8:c.1674C>T (FANCC) MANE Select	ENSP00000289081.3:p.Val558=
ENST00000375305.6:c.1674C>T (FANCC)	ENSP00000364454.1:p.Val558=
ENST00000649334.1:c.1819C>T (FANCC)	ENSP00000497735.1:n.1819C>T
ENST00000289081.7:c.1674C>T (FANCC)	ENSP00000289081.3:p.Val558=
ENST00000375305.5:c.1674C>T (FANCC)	ENSP00000364454.1:p.Val558=
NM_000136.2:c.1674C>T , LRG_497t1:c.1674C>T (FANCC)	NP_000127.2:p.Val558=
NM_001243743.1:c.1674C>T (FANCC)	NP_001230672.1:p.Val558=
XM_005251802.2:c.993C>T (FANCC)	XP_005251859.1:p.Val331=
XM_006717001.1:c.1509C>T (FANCC)	XP_006717064.1:p.Val503=
XM_011518365.1:c.1674C>T (FANCC)	XP_011516667.1:p.Val558=
XM_011518367.1:c.1218C>T (FANCC)	XP_011516669.1:p.Val406=
XM_011519121.1:c.2319+20930G>A (AOPEP)	XP_011517423.1:n.2319+20930G>A
XM_005251802.3:c.993C>T (FANCC)	XP_005251859.1:p.Val331=
XM_006717001.3:c.1509C>T (FANCC)	XP_006717064.1:p.Val503=
XM_011518365.3:c.1674C>T (FANCC)	XP_011516667.1:p.Val558=
XM_011518367.2:c.1218C>T (FANCC)	XP_011516669.1:p.Val406=
XM_011519121.3:c.2319+20930G>A (AOPEP)	XP_011517423.1:n.2319+20930G>A
XM_017014452.2:c.1218C>T (FANCC)	XP_016869941.1:p.Val406=
XM_017014453.1:c.1218C>T (FANCC)	XP_016869942.1:p.Val406=
XM_017014454.1:c.1053C>T (FANCC)	XP_016869943.1:p.Val351=
XM_024447451.1:c.1674C>T (FANCC)	XP_024303219.1:p.Val558=
NM_000136.3:c.1674C>T (FANCC) MANE Select	NP_000127.2:p.Val558=
NM_001243743.2:c.1674C>T (FANCC)	NP_001230672.1:p.Val558=