Canonical Allele Identifier: CA443960826

Gene: C7

Linked Data

• dbSNP Id: rs1236767064
• gnomAD v2: 5-40964863-T-C
• gnomAD v4: 5-40964761-T-C
• MyVariant Identifiers: chr5:g.40964863T>C (hg19) ; chr5:g.40964761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964761T>C , CM000667.2:g.40964761T>C	GRCh38
NC_000005.9:g.40964863T>C , CM000667.1:g.40964863T>C	GRCh37
NC_000005.8:g.41000620T>C	NCBI36
NG_011692.1:g.60265T>C , LRG_30:g.60265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.562T>C
ENST00000696333.1:c.1770T>C	ENSP00000512566.1:p.Pro590=
ENST00000696441.1:c.1770T>C	ENSP00000512631.1:p.Pro590=
ENST00000706664.1:n.1884T>C
ENST00000706666.1:n.1846T>C
ENST00000706667.1:n.2660T>C
ENST00000706668.1:n.2498T>C
ENST00000313164.10:c.1770T>C MANE Select	ENSP00000322061.9:p.Pro590=
ENST00000313164.9:c.1770T>C	ENSP00000322061.9:p.Pro590=
ENST00000486779.1:n.283T>C
NM_000587.2:c.1770T>C , LRG_30t1:c.1770T>C	NP_000578.2:p.Pro590=
XM_011514122.1:c.1770T>C	XP_011512424.1:p.Pro590=
NM_000587.3:c.1770T>C	NP_000578.2:p.Pro590=
NM_000587.4:c.1770T>C MANE Select	NP_000578.2:p.Pro590=