Canonical Allele Identifier: CA413851860

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1495154
• ClinVar RCV Id: RCV001999160
• dbSNP Id: rs2147982015
• MyVariant Identifiers: chrX:g.107924990G>C (hg19) ; chrX:g.108681760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681760G>C , CM000685.2:g.108681760G>C	GRCh38
NC_000023.10:g.107924990G>C , CM000685.1:g.107924990G>C	GRCh37
NC_000023.9:g.107811646G>C	NCBI36
NG_011977.1:g.246837G>C
NG_011977.2:g.246837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4088G>C MANE Select	ENSP00000331902.7:p.Gly1363Ala
ENST00000361603.7:c.4070G>C	ENSP00000354505.2:p.Gly1357Ala
ENST00000510690.2:n.582G>C
ENST00000328300.10:c.4088G>C	ENSP00000331902.6:p.Gly1363Ala
ENST00000361603.6:c.4070G>C	ENSP00000354505.2:p.Gly1357Ala
ENST00000489230.1:n.491G>C
NM_000495.4:c.4070G>C	NP_000486.1:p.Gly1357Ala
NM_033380.2:c.4088G>C	NP_203699.1:p.Gly1363Ala
XM_005262070.2:c.4079G>C	XP_005262127.1:p.Gly1360Ala
XM_006724616.2:c.4088G>C	XP_006724679.1:p.Gly1363Ala
XM_011530849.1:c.3764G>C	XP_011529151.1:p.Gly1255Ala
XM_011530851.1:c.1661G>C	XP_011529153.1:p.Gly554Ala
XM_011530849.2:c.4103G>C	XP_011529151.2:p.Gly1368Ala
XM_017029259.2:c.4094G>C	XP_016884748.1:p.Gly1365Ala
XM_017029260.1:c.4085G>C	XP_016884749.1:p.Gly1362Ala
XM_017029263.2:c.2423G>C	XP_016884752.1:p.Gly808Ala
NM_000495.5:c.4070G>C	NP_000486.1:p.Gly1357Ala
NM_033380.3:c.4088G>C MANE Select	NP_203699.1:p.Gly1363Ala