Canonical Allele Identifier: CA359590703

Gene: C7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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