Canonical Allele Identifier: CA10487210

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108160683T>A , CM000685.2:g.108160683T>A	GRCh38
NC_000023.10:g.107403913T>A , CM000685.1:g.107403913T>A	GRCh37
NC_000023.9:g.107290569T>A	NCBI36
NG_012059.2:g.283792A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033641.4:c.4334-29A>T MANE Select	NP_378667.1:n.4334-29A>T
ENST00000334504.12:c.4334-29A>T MANE Select	ENSP00000334733.7:n.4334-29A>T
NM_001287758.1:c.4385-29A>T	NP_001274687.1:n.4385-29A>T
NM_001287758.2:c.4385-29A>T	NP_001274687.1:n.4385-29A>T
NM_001287759.1:c.4262-29A>T	NP_001274688.1:n.4262-29A>T
NM_001287759.2:c.4262-29A>T	NP_001274688.1:n.4262-29A>T
NM_001287760.1:c.4163-29A>T	NP_001274689.1:n.4163-29A>T
NM_001287760.2:c.4163-29A>T	NP_001274689.1:n.4163-29A>T
NM_001847.3:c.4337-29A>T	NP_001838.2:n.4337-29A>T
NM_001847.4:c.4337-29A>T	NP_001838.2:n.4337-29A>T
NM_033641.3:c.4334-29A>T	NP_378667.1:n.4334-29A>T
ENST00000334504.11:c.4334-29A>T	ENSP00000334733.7:n.4334-29A>T
ENST00000372216.8:c.4337-29A>T	ENSP00000361290.4:n.4337-29A>T
ENST00000394872.6:c.4385-29A>T	ENSP00000378340.3:n.4385-29A>T
ENST00000538570.5:c.4163-29A>T	ENSP00000445236.1:n.4163-29A>T
ENST00000545689.2:c.4298-29A>T	ENSP00000443707.2:n.4298-29A>T
ENST00000621266.4:c.4262-29A>T	ENSP00000482970.1:n.4262-29A>T
XM_006724617.2:c.4388-29A>T	XP_006724680.1:n.4388-29A>T
XM_006724617.3:c.4388-29A>T	XP_006724680.1:n.4388-29A>T
XM_011530852.1:c.4316-29A>T	XP_011529154.1:n.4316-29A>T
XM_011530852.2:c.4316-29A>T	XP_011529154.1:n.4316-29A>T
XM_011530853.1:c.4304-29A>T	XP_011529155.1:n.4304-29A>T
XM_011530853.3:c.4304-29A>T	XP_011529155.1:n.4304-29A>T