Canonical Allele Identifier: CA359591518

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964973A>T (hg19) ; chr5:g.40964871A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964871A>T , CM000667.2:g.40964871A>T	GRCh38
NC_000005.9:g.40964973A>T , CM000667.1:g.40964973A>T	GRCh37
NC_000005.8:g.41000730A>T	NCBI36
NG_011692.1:g.60375A>T , LRG_30:g.60375A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.672A>T
ENST00000696333.1:c.1880A>T	ENSP00000512566.1:p.Gln627Leu
ENST00000696441.1:c.1880A>T	ENSP00000512631.1:p.Gln627Leu
ENST00000706664.1:n.1994A>T
ENST00000706666.1:n.1956A>T
ENST00000706667.1:n.2770A>T
ENST00000706668.1:n.2608A>T
ENST00000313164.10:c.1880A>T MANE Select	ENSP00000322061.9:p.Gln627Leu
ENST00000313164.9:c.1880A>T	ENSP00000322061.9:p.Gln627Leu
ENST00000486779.1:n.393A>T
NM_000587.2:c.1880A>T , LRG_30t1:c.1880A>T	NP_000578.2:p.Gln627Leu
XM_011514122.1:c.1880A>T	XP_011512424.1:p.Gln627Leu
NM_000587.3:c.1880A>T	NP_000578.2:p.Gln627Leu
NM_000587.4:c.1880A>T MANE Select	NP_000578.2:p.Gln627Leu