Canonical Allele Identifier: CA359598263
Gene: C6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41161776T>A , CM000667.2:g.41161776T>A GRCh38
NC_000005.9:g.41161878T>A , CM000667.1:g.41161878T>A GRCh37
NC_000005.8:g.41197635T>A NCBI36
NG_011582.1:g.104663A>T , LRG_29:g.104663A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706655.1:n.1648A>T
ENST00000337836.10:c.1375A>T MANE Select ENSP00000338861.5:p.Lys459Ter
ENST00000263413.7:c.1375A>T ENSP00000263413.3:p.Lys459Ter
ENST00000337836.9:c.1375A>T ENSP00000338861.5:p.Lys459Ter
ENST00000473450.1:n.380A>T
ENST00000475349.5:n.774A>T
NM_000065.3:c.1375A>T NP_000056.2:p.Lys459Ter
NM_001115131.2:c.1375A>T NP_001108603.2:p.Lys459Ter
XM_005248357.1:c.1402A>T XP_005248414.1:p.Lys468Ter
XM_006714496.2:c.1402A>T XP_006714559.1:p.Lys468Ter
XM_011514114.1:c.1402A>T XP_011512416.1:p.Lys468Ter
XM_011514115.1:c.1375A>T XP_011512417.1:p.Lys459Ter
XM_011514116.1:c.1375A>T XP_011512418.1:p.Lys459Ter
XM_011514117.1:c.1375A>T XP_011512419.1:p.Lys459Ter
XM_011514118.1:c.1375A>T XP_011512420.1:p.Lys459Ter
XM_011514119.1:c.1402A>T XP_011512421.1:p.Lys468Ter
XM_011514120.1:c.958A>T XP_011512422.1:p.Lys320Ter
XM_011514121.1:c.418A>T XP_011512423.1:p.Lys140Ter
XR_925944.1:n.916+359T>A
XR_925948.1:n.812-39500T>A
XM_005248357.3:c.1402A>T XP_005248414.1:p.Lys468Ter
XM_006714496.4:c.1402A>T XP_006714559.1:p.Lys468Ter
XM_011514114.3:c.1402A>T XP_011512416.1:p.Lys468Ter
XM_011514115.3:c.1375A>T XP_011512417.1:p.Lys459Ter
XM_011514116.3:c.1375A>T XP_011512418.1:p.Lys459Ter
XM_011514117.3:c.1375A>T XP_011512419.1:p.Lys459Ter
XM_011514118.3:c.1375A>T XP_011512420.1:p.Lys459Ter
XM_011514119.3:c.1402A>T XP_011512421.1:p.Lys468Ter
XM_011514121.3:c.418A>T XP_011512423.1:p.Lys140Ter
XM_017009818.2:c.1375A>T XP_016865307.1:p.Lys459Ter
XM_017009819.2:c.931A>T XP_016865308.1:p.Lys311Ter
NM_000065.4:c.1375A>T NP_000056.2:p.Lys459Ter
NM_001115131.3:c.1375A>T NP_001108603.2:p.Lys459Ter
NM_000065.5:c.1375A>T MANE Select NP_000056.2:p.Lys459Ter
NM_001115131.4:c.1375A>T NP_001108603.2:p.Lys459Ter