Canonical Allele Identifier: CA413853812

Gene: COL4A5

Linked Data

• COSMIC: COSM5411729 ; COSM5411730
• MyVariant Identifiers: chrX:g.107929351G>C (hg19) ; chrX:g.108686121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686121G>C , CM000685.2:g.108686121G>C	GRCh38
NC_000023.10:g.107929351G>C , CM000685.1:g.107929351G>C	GRCh37
NC_000023.9:g.107816007G>C	NCBI36
NG_011977.1:g.251198G>C
NG_011977.2:g.251198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4307G>C MANE Select	ENSP00000331902.7:p.Gly1436Ala
ENST00000361603.7:c.4289G>C	ENSP00000354505.2:p.Gly1430Ala
ENST00000510690.2:n.801G>C
ENST00000328300.10:c.4307G>C	ENSP00000331902.6:p.Gly1436Ala
ENST00000361603.6:c.4289G>C	ENSP00000354505.2:p.Gly1430Ala
ENST00000489230.1:n.710G>C
ENST00000515658.1:c.103G>C
NM_000495.4:c.4289G>C	NP_000486.1:p.Gly1430Ala
NM_033380.2:c.4307G>C	NP_203699.1:p.Gly1436Ala
XM_005262070.2:c.4298G>C	XP_005262127.1:p.Gly1433Ala
XM_006724616.2:c.4307G>C	XP_006724679.1:p.Gly1436Ala
XM_011530849.1:c.3983G>C	XP_011529151.1:p.Gly1328Ala
XM_011530851.1:c.1880G>C	XP_011529153.1:p.Gly627Ala
XM_011530849.2:c.4322G>C	XP_011529151.2:p.Gly1441Ala
XM_017029259.2:c.4313G>C	XP_016884748.1:p.Gly1438Ala
XM_017029260.1:c.4304G>C	XP_016884749.1:p.Gly1435Ala
XM_017029263.2:c.2642G>C	XP_016884752.1:p.Gly881Ala
NM_000495.5:c.4289G>C	NP_000486.1:p.Gly1430Ala
NM_033380.3:c.4307G>C MANE Select	NP_203699.1:p.Gly1436Ala