Canonical Allele Identifier: CA3252142

Gene: C6

Linked Data

• ClinVar Variation Id: 379370
• ClinVar RCV Id: RCV002221153 ; RCV002244875 ; RCV002268046 ; RCV003409589
• dbSNP Id: rs76202909
• ExAC: 5:41150035 A / G
• gnomAD v2: 5-41150035-A-G
• gnomAD v3: 5-41149933-A-G
• gnomAD v4: 5-41149933-A-G
• MyVariant Identifiers: chr5:g.41150035A>G (hg19) ; chr5:g.41149933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41149933A>G , CM000667.2:g.41149933A>G	GRCh38
NC_000005.9:g.41150035A>G , CM000667.1:g.41150035A>G	GRCh37
NC_000005.8:g.41185792A>G	NCBI36
NG_011582.1:g.116506T>C , LRG_29:g.116506T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706654.1:n.548+2T>C
ENST00000337836.10:c.2381+2T>C MANE Select	ENSP00000338861.5:n.2381+2T>C
ENST00000263413.7:c.2381+2T>C	ENSP00000263413.3:n.2381+2T>C
ENST00000337836.9:c.2381+2T>C	ENSP00000338861.5:n.2381+2T>C
NM_000065.3:c.2381+2T>C	NP_000056.2:n.2381+2T>C
NM_001115131.2:c.2381+2T>C	NP_001108603.2:n.2381+2T>C
XM_005248357.1:c.2408+2T>C	XP_005248414.1:n.2408+2T>C
XM_006714496.2:c.2465+2T>C	XP_006714559.1:n.2465+2T>C
XM_011514114.1:c.2465+2T>C	XP_011512416.1:n.2465+2T>C
XM_011514115.1:c.2438+2T>C	XP_011512417.1:n.2438+2T>C
XM_011514116.1:c.2438+2T>C	XP_011512418.1:n.2438+2T>C
XM_011514117.1:c.2438+2T>C	XP_011512419.1:n.2438+2T>C
XM_011514118.1:c.2438+2T>C	XP_011512420.1:n.2438+2T>C
XM_011514119.1:c.2408+2T>C	XP_011512421.1:n.2408+2T>C
XM_011514120.1:c.2021+2T>C	XP_011512422.1:n.2021+2T>C
XM_011514121.1:c.1481+2T>C	XP_011512423.1:n.1481+2T>C
XR_925944.1:n.812-11380A>G
XR_925945.1:n.319-11380A>G
XR_925946.1:n.770-11380A>G
XR_925948.1:n.811+36110A>G
XM_005248357.3:c.2408+2T>C	XP_005248414.1:n.2408+2T>C
XM_006714496.4:c.2465+2T>C	XP_006714559.1:n.2465+2T>C
XM_011514114.3:c.2465+2T>C	XP_011512416.1:n.2465+2T>C
XM_011514115.3:c.2438+2T>C	XP_011512417.1:n.2438+2T>C
XM_011514116.3:c.2438+2T>C	XP_011512418.1:n.2438+2T>C
XM_011514117.3:c.2438+2T>C	XP_011512419.1:n.2438+2T>C
XM_011514118.3:c.2438+2T>C	XP_011512420.1:n.2438+2T>C
XM_011514119.3:c.2408+2T>C	XP_011512421.1:n.2408+2T>C
XM_011514121.3:c.1481+2T>C	XP_011512423.1:n.1481+2T>C
XM_017009818.2:c.2438+2T>C	XP_016865307.1:n.2438+2T>C
XM_017009819.2:c.1994+2T>C	XP_016865308.1:n.1994+2T>C
XR_001742650.1:n.812-11380A>G
XR_001742651.1:n.325-11380A>G
NM_000065.4:c.2381+2T>C	NP_000056.2:n.2381+2T>C
NM_001115131.3:c.2381+2T>C	NP_001108603.2:n.2381+2T>C
NM_000065.5:c.2381+2T>C MANE Select	NP_000056.2:n.2381+2T>C
NM_001115131.4:c.2381+2T>C	NP_001108603.2:n.2381+2T>C