Canonical Allele Identifier: CA10487651

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108179261C>T , CM000685.2:g.108179261C>T	GRCh38
NC_000023.10:g.107422491C>T , CM000685.1:g.107422491C>T	GRCh37
NC_000023.9:g.107309147C>T	NCBI36
NG_012059.2:g.265214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.2309G>A MANE Select	ENSP00000334733.7:p.Gly770Glu
ENST00000334504.11:c.2309G>A	ENSP00000334733.7:p.Gly770Glu
ENST00000372216.8:c.2312G>A	ENSP00000361290.4:p.Gly771Glu
ENST00000394872.6:c.2360G>A	ENSP00000378340.3:p.Gly787Glu
ENST00000538570.5:c.2309G>A	ENSP00000445236.1:p.Gly770Glu
ENST00000545689.2:c.2309G>A	ENSP00000443707.2:p.Gly770Glu
ENST00000621266.4:c.2309G>A	ENSP00000482970.1:p.Gly770Glu
NM_001287758.1:c.2360G>A	NP_001274687.1:p.Gly787Glu
NM_001287759.1:c.2309G>A	NP_001274688.1:p.Gly770Glu
NM_001287760.1:c.2309G>A	NP_001274689.1:p.Gly770Glu
NM_001847.3:c.2312G>A	NP_001838.2:p.Gly771Glu
NM_033641.3:c.2309G>A	NP_378667.1:p.Gly770Glu
XM_006724617.2:c.2363G>A	XP_006724680.1:p.Gly788Glu
XM_011530852.1:c.2363G>A	XP_011529154.1:p.Gly788Glu
XM_011530853.1:c.2279G>A	XP_011529155.1:p.Gly760Glu
XM_011530854.1:c.2363G>A	XP_011529156.1:p.Gly788Glu
XM_006724617.3:c.2363G>A	XP_006724680.1:p.Gly788Glu
XM_011530852.2:c.2363G>A	XP_011529154.1:p.Gly788Glu
XM_011530853.3:c.2279G>A	XP_011529155.1:p.Gly760Glu
XM_011530854.2:c.2363G>A	XP_011529156.1:p.Gly788Glu
XR_001755650.1:n.2485G>A
NM_001847.4:c.2312G>A	NP_001838.2:p.Gly771Glu
NM_033641.4:c.2309G>A MANE Select	NP_378667.1:p.Gly770Glu
NM_001287758.2:c.2360G>A	NP_001274687.1:p.Gly787Glu
NM_001287759.2:c.2309G>A	NP_001274688.1:p.Gly770Glu
NM_001287760.2:c.2309G>A	NP_001274689.1:p.Gly770Glu