Canonical Allele Identifier: CA359591056

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964909A>C (hg19) ; chr5:g.40964807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964807A>C , CM000667.2:g.40964807A>C	GRCh38
NC_000005.9:g.40964909A>C , CM000667.1:g.40964909A>C	GRCh37
NC_000005.8:g.41000666A>C	NCBI36
NG_011692.1:g.60311A>C , LRG_30:g.60311A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.608A>C
ENST00000696333.1:c.1816A>C	ENSP00000512566.1:p.Ile606Leu
ENST00000696441.1:c.1816A>C	ENSP00000512631.1:p.Ile606Leu
ENST00000706664.1:n.1930A>C
ENST00000706666.1:n.1892A>C
ENST00000706667.1:n.2706A>C
ENST00000706668.1:n.2544A>C
ENST00000313164.10:c.1816A>C MANE Select	ENSP00000322061.9:p.Ile606Leu
ENST00000313164.9:c.1816A>C	ENSP00000322061.9:p.Ile606Leu
ENST00000486779.1:n.329A>C
NM_000587.2:c.1816A>C , LRG_30t1:c.1816A>C	NP_000578.2:p.Ile606Leu
XM_011514122.1:c.1816A>C	XP_011512424.1:p.Ile606Leu
NM_000587.3:c.1816A>C	NP_000578.2:p.Ile606Leu
NM_000587.4:c.1816A>C MANE Select	NP_000578.2:p.Ile606Leu