Canonical Allele Identifier: CA359590715

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964857G>C (hg19) ; chr5:g.40964755G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964755G>C , CM000667.2:g.40964755G>C	GRCh38
NC_000005.9:g.40964857G>C , CM000667.1:g.40964857G>C	GRCh37
NC_000005.8:g.41000614G>C	NCBI36
NG_011692.1:g.60259G>C , LRG_30:g.60259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.556G>C
ENST00000696333.1:c.1764G>C	ENSP00000512566.1:p.Met588Ile
ENST00000696441.1:c.1764G>C	ENSP00000512631.1:p.Met588Ile
ENST00000706664.1:n.1878G>C
ENST00000706666.1:n.1840G>C
ENST00000706667.1:n.2654G>C
ENST00000706668.1:n.2492G>C
ENST00000313164.10:c.1764G>C MANE Select	ENSP00000322061.9:p.Met588Ile
ENST00000313164.9:c.1764G>C	ENSP00000322061.9:p.Met588Ile
ENST00000486779.1:n.277G>C
NM_000587.2:c.1764G>C , LRG_30t1:c.1764G>C	NP_000578.2:p.Met588Ile
XM_011514122.1:c.1764G>C	XP_011512424.1:p.Met588Ile
NM_000587.3:c.1764G>C	NP_000578.2:p.Met588Ile
NM_000587.4:c.1764G>C MANE Select	NP_000578.2:p.Met588Ile