Canonical Allele Identifier: CA10487298

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108164934T>C , CM000685.2:g.108164934T>C	GRCh38
NC_000023.10:g.107408164T>C , CM000685.1:g.107408164T>C	GRCh37
NC_000023.9:g.107294820T>C	NCBI36
NG_012059.2:g.279541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.3913A>G MANE Select	ENSP00000334733.7:p.Lys1305Glu
ENST00000334504.11:c.3913A>G	ENSP00000334733.7:p.Lys1305Glu
ENST00000372216.8:c.3916A>G	ENSP00000361290.4:p.Lys1306Glu
ENST00000394872.6:c.3964A>G	ENSP00000378340.3:p.Lys1322Glu
ENST00000538570.5:c.3841A>G	ENSP00000445236.1:p.Lys1281Glu
ENST00000545689.2:c.3890-13A>G	ENSP00000443707.2:n.3890-13A>G
ENST00000621266.4:c.3841A>G	ENSP00000482970.1:p.Lys1281Glu
NM_001287758.1:c.3964A>G	NP_001274687.1:p.Lys1322Glu
NM_001287759.1:c.3841A>G	NP_001274688.1:p.Lys1281Glu
NM_001287760.1:c.3841A>G	NP_001274689.1:p.Lys1281Glu
NM_001847.3:c.3916A>G	NP_001838.2:p.Lys1306Glu
NM_033641.3:c.3913A>G	NP_378667.1:p.Lys1305Glu
XM_006724617.2:c.3967A>G	XP_006724680.1:p.Lys1323Glu
XM_011530852.1:c.3895A>G	XP_011529154.1:p.Lys1299Glu
XM_011530853.1:c.3883A>G	XP_011529155.1:p.Lys1295Glu
XM_006724617.3:c.3967A>G	XP_006724680.1:p.Lys1323Glu
XM_011530852.2:c.3895A>G	XP_011529154.1:p.Lys1299Glu
XM_011530853.3:c.3883A>G	XP_011529155.1:p.Lys1295Glu
NM_001847.4:c.3916A>G	NP_001838.2:p.Lys1306Glu
NM_033641.4:c.3913A>G MANE Select	NP_378667.1:p.Lys1305Glu
NM_001287758.2:c.3964A>G	NP_001274687.1:p.Lys1322Glu
NM_001287759.2:c.3841A>G	NP_001274688.1:p.Lys1281Glu
NM_001287760.2:c.3841A>G	NP_001274689.1:p.Lys1281Glu