Canonical Allele Identifier: CA2840243435

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108156972G>T , CM000685.2:g.108156972G>T	GRCh38
NC_000023.10:g.107400202G>T , CM000685.1:g.107400202G>T	GRCh37
NC_000023.9:g.107286858G>T	NCBI36
NG_012059.2:g.287503C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.*28C>A MANE Select	ENSP00000334733.7:n.*28C>A
ENST00000334504.11:c.*28C>A	ENSP00000334733.7:n.*28C>A
ENST00000372216.8:c.*28C>A	ENSP00000361290.4:n.*28C>A
ENST00000394872.6:c.*28C>A	ENSP00000378340.3:n.*28C>A
ENST00000538570.5:c.*28C>A	ENSP00000445236.1:n.*28C>A
ENST00000545689.2:c.*28C>A	ENSP00000443707.2:n.*28C>A
ENST00000621266.4:c.*28C>A	ENSP00000482970.1:n.*28C>A
NM_001287758.1:c.*28C>A	NP_001274687.1:n.*28C>A
NM_001287759.1:c.*28C>A	NP_001274688.1:n.*28C>A
NM_001287760.1:c.*28C>A	NP_001274689.1:n.*28C>A
NM_001847.3:c.*28C>A	NP_001838.2:n.*28C>A
NM_033641.3:c.*28C>A	NP_378667.1:n.*28C>A
XM_006724617.2:c.*28C>A	XP_006724680.1:n.*28C>A
XM_011530852.1:c.*28C>A	XP_011529154.1:n.*28C>A
XM_011530853.1:c.*28C>A	XP_011529155.1:n.*28C>A
XM_006724617.3:c.*28C>A	XP_006724680.1:n.*28C>A
XM_011530852.2:c.*28C>A	XP_011529154.1:n.*28C>A
XM_011530853.3:c.*28C>A	XP_011529155.1:n.*28C>A
NM_001847.4:c.*28C>A	NP_001838.2:n.*28C>A
NM_033641.4:c.*28C>A MANE Select	NP_378667.1:n.*28C>A
NM_001287758.2:c.*28C>A	NP_001274687.1:n.*28C>A
NM_001287759.2:c.*28C>A	NP_001274688.1:n.*28C>A
NM_001287760.2:c.*28C>A	NP_001274689.1:n.*28C>A