Canonical Allele Identifier: CA117241013
Gene: C7 HGNC NCBI

Linked Data

dbSNP Id: rs121964919
MyVariant Identifiers: chr5:g.40979911T>A (hg19) chr5:g.40979809T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40979809T>A , CM000667.2:g.40979809T>A GRCh38
NC_000005.9:g.40979911T>A , CM000667.1:g.40979911T>A GRCh37
NC_000005.8:g.41015668T>A NCBI36
NG_011692.1:g.75313T>A , LRG_30:g.75313T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696333.1:c.2250T>A ENSP00000512566.1:p.Cys750Ter
ENST00000696441.1:c.2250T>A ENSP00000512631.1:p.Cys750Ter
ENST00000696442.1:n.184T>A
ENST00000706664.1:n.2364T>A
ENST00000706666.1:n.2241+2969T>A
ENST00000706667.1:n.3140T>A
ENST00000706668.1:n.2978T>A
ENST00000313164.10:c.2250T>A MANE Select ENSP00000322061.9:p.Cys750Ter
ENST00000313164.9:c.2250T>A ENSP00000322061.9:p.Cys750Ter
ENST00000464864.1:n.263T>A
ENST00000494960.5:n.250T>A
NM_000587.2:c.2250T>A , LRG_30t1:c.2250T>A NP_000578.2:p.Cys750Ter
XM_011514122.1:c.2250T>A XP_011512424.1:p.Cys750Ter
NM_000587.3:c.2250T>A NP_000578.2:p.Cys750Ter
NM_000587.4:c.2250T>A MANE Select NP_000578.2:p.Cys750Ter
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