Canonical Allele Identifier: CA413852180

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2031218
• ClinVar RCV Id: RCV002898784
• MyVariant Identifiers: chrX:g.107865096G>C (hg19) ; chrX:g.108621866G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621866G>C , CM000685.2:g.108621866G>C	GRCh38
NC_000023.10:g.107865096G>C , CM000685.1:g.107865096G>C	GRCh37
NC_000023.9:g.107751752G>C	NCBI36
NG_011977.1:g.186943G>C
NG_011977.2:g.186943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2741G>C MANE Select	ENSP00000331902.7:p.Gly914Ala
ENST00000361603.7:c.2741G>C	ENSP00000354505.2:p.Gly914Ala
ENST00000328300.10:c.2741G>C	ENSP00000331902.6:p.Gly914Ala
ENST00000361603.6:c.2741G>C	ENSP00000354505.2:p.Gly914Ala
ENST00000483338.1:n.2197G>C
NM_000495.4:c.2741G>C	NP_000486.1:p.Gly914Ala
NM_033380.2:c.2741G>C	NP_203699.1:p.Gly914Ala
XM_005262070.2:c.2741G>C	XP_005262127.1:p.Gly914Ala
XM_005262072.3:c.2741G>C	XP_005262129.1:p.Gly914Ala
XM_006724616.2:c.2741G>C	XP_006724679.1:p.Gly914Ala
XM_011530849.1:c.2417G>C	XP_011529151.1:p.Gly806Ala
XM_011530850.1:c.2741G>C	XP_011529152.1:p.Gly914Ala
XM_011530851.1:c.314G>C	XP_011529153.1:p.Gly105Ala
XM_011530849.2:c.2756G>C	XP_011529151.2:p.Gly919Ala
XM_017029259.2:c.2756G>C	XP_016884748.1:p.Gly919Ala
XM_017029260.1:c.2756G>C	XP_016884749.1:p.Gly919Ala
XM_017029261.1:c.2756G>C	XP_016884750.1:p.Gly919Ala
XM_017029262.2:c.2756G>C	XP_016884751.1:p.Gly919Ala
XM_017029263.2:c.1076G>C	XP_016884752.1:p.Gly359Ala
NM_000495.5:c.2741G>C	NP_000486.1:p.Gly914Ala
NM_033380.3:c.2741G>C MANE Select	NP_203699.1:p.Gly914Ala