Canonical Allele Identifier: CA334035136

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108161812T>C , CM000685.2:g.108161812T>C	GRCh38
NC_000023.10:g.107405042T>C , CM000685.1:g.107405042T>C	GRCh37
NC_000023.9:g.107291698T>C	NCBI36
NG_012059.2:g.282663A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033641.4:c.4217-77A>G MANE Select	NP_378667.1:n.4217-77A>G
ENST00000334504.12:c.4217-77A>G MANE Select	ENSP00000334733.7:n.4217-77A>G
NM_001287758.1:c.4268-77A>G	NP_001274687.1:n.4268-77A>G
NM_001287758.2:c.4268-77A>G	NP_001274687.1:n.4268-77A>G
NM_001287759.1:c.4145-77A>G	NP_001274688.1:n.4145-77A>G
NM_001287759.2:c.4145-77A>G	NP_001274688.1:n.4145-77A>G
NM_001287760.1:c.4046-77A>G	NP_001274689.1:n.4046-77A>G
NM_001287760.2:c.4046-77A>G	NP_001274689.1:n.4046-77A>G
NM_001847.3:c.4220-77A>G	NP_001838.2:n.4220-77A>G
NM_001847.4:c.4220-77A>G	NP_001838.2:n.4220-77A>G
NM_033641.3:c.4217-77A>G	NP_378667.1:n.4217-77A>G
ENST00000334504.11:c.4217-77A>G	ENSP00000334733.7:n.4217-77A>G
ENST00000372216.8:c.4220-77A>G	ENSP00000361290.4:n.4220-77A>G
ENST00000394872.6:c.4268-77A>G	ENSP00000378340.3:n.4268-77A>G
ENST00000487645.1:n.708-77A>G
ENST00000538570.5:c.4046-77A>G	ENSP00000445236.1:n.4046-77A>G
ENST00000545689.2:c.4181-77A>G	ENSP00000443707.2:n.4181-77A>G
ENST00000621266.4:c.4145-77A>G	ENSP00000482970.1:n.4145-77A>G
XM_006724617.2:c.4271-77A>G	XP_006724680.1:n.4271-77A>G
XM_006724617.3:c.4271-77A>G	XP_006724680.1:n.4271-77A>G
XM_011530852.1:c.4199-77A>G	XP_011529154.1:n.4199-77A>G
XM_011530852.2:c.4199-77A>G	XP_011529154.1:n.4199-77A>G
XM_011530853.1:c.4187-77A>G	XP_011529155.1:n.4187-77A>G
XM_011530853.3:c.4187-77A>G	XP_011529155.1:n.4187-77A>G