Canonical Allele Identifier: CA359590706

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964855A>T (hg19) ; chr5:g.40964753A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964753A>T , CM000667.2:g.40964753A>T	GRCh38
NC_000005.9:g.40964855A>T , CM000667.1:g.40964855A>T	GRCh37
NC_000005.8:g.41000612A>T	NCBI36
NG_011692.1:g.60257A>T , LRG_30:g.60257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.554A>T
ENST00000696333.1:c.1762A>T	ENSP00000512566.1:p.Met588Leu
ENST00000696441.1:c.1762A>T	ENSP00000512631.1:p.Met588Leu
ENST00000706664.1:n.1876A>T
ENST00000706666.1:n.1838A>T
ENST00000706667.1:n.2652A>T
ENST00000706668.1:n.2490A>T
ENST00000313164.10:c.1762A>T MANE Select	ENSP00000322061.9:p.Met588Leu
ENST00000313164.9:c.1762A>T	ENSP00000322061.9:p.Met588Leu
ENST00000486779.1:n.275A>T
NM_000587.2:c.1762A>T , LRG_30t1:c.1762A>T	NP_000578.2:p.Met588Leu
XM_011514122.1:c.1762A>T	XP_011512424.1:p.Met588Leu
NM_000587.3:c.1762A>T	NP_000578.2:p.Met588Leu
NM_000587.4:c.1762A>T MANE Select	NP_000578.2:p.Met588Leu