Canonical Allele Identifier: CA10487122

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108159544A>G , CM000685.2:g.108159544A>G	GRCh38
NC_000023.10:g.107402774A>G , CM000685.1:g.107402774A>G	GRCh37
NC_000023.9:g.107289430A>G	NCBI36
NG_012059.2:g.284931T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033641.4:c.4730T>C MANE Select	NP_378667.1:p.Ile1577Thr
ENST00000334504.12:c.4730T>C MANE Select	ENSP00000334733.7:p.Ile1577Thr
NM_001287758.1:c.4781T>C	NP_001274687.1:p.Ile1594Thr
NM_001287758.2:c.4781T>C	NP_001274687.1:p.Ile1594Thr
NM_001287759.1:c.4658T>C	NP_001274688.1:p.Ile1553Thr
NM_001287759.2:c.4658T>C	NP_001274688.1:p.Ile1553Thr
NM_001287760.1:c.4559T>C	NP_001274689.1:p.Ile1520Thr
NM_001287760.2:c.4559T>C	NP_001274689.1:p.Ile1520Thr
NM_001847.3:c.4733T>C	NP_001838.2:p.Ile1578Thr
NM_001847.4:c.4733T>C	NP_001838.2:p.Ile1578Thr
NM_033641.3:c.4730T>C	NP_378667.1:p.Ile1577Thr
ENST00000334504.11:c.4730T>C	ENSP00000334733.7:p.Ile1577Thr
ENST00000372216.8:c.4733T>C	ENSP00000361290.4:p.Ile1578Thr
ENST00000394872.6:c.4781T>C	ENSP00000378340.3:p.Ile1594Thr
ENST00000538570.5:c.4559T>C	ENSP00000445236.1:p.Ile1520Thr
ENST00000545689.2:c.4694T>C	ENSP00000443707.2:p.Ile1565Thr
ENST00000621266.4:c.4658T>C	ENSP00000482970.1:p.Ile1553Thr
XM_006724617.2:c.4784T>C	XP_006724680.1:p.Ile1595Thr
XM_006724617.3:c.4784T>C	XP_006724680.1:p.Ile1595Thr
XM_011530852.1:c.4712T>C	XP_011529154.1:p.Ile1571Thr
XM_011530852.2:c.4712T>C	XP_011529154.1:p.Ile1571Thr
XM_011530853.1:c.4700T>C	XP_011529155.1:p.Ile1567Thr
XM_011530853.3:c.4700T>C	XP_011529155.1:p.Ile1567Thr