Canonical Allele Identifier: CA258974

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2138709
• ClinVar RCV Id: RCV003066374
• dbSNP Id: rs104886266
• MyVariant Identifiers: chrX:g.107923981G>A (hg19) ; chrX:g.108680751G>A (hg38)
• PubMed: PMID:10094548

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680751G>A , CM000685.2:g.108680751G>A	GRCh38
NC_000023.10:g.107923981G>A , CM000685.1:g.107923981G>A	GRCh37
NC_000023.9:g.107810637G>A	NCBI36
NG_011977.1:g.245828G>A
NG_011977.2:g.245828G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4015G>A MANE Select	ENSP00000331902.7:p.Gly1339Ser
ENST00000361603.7:c.3997G>A	ENSP00000354505.2:p.Gly1333Ser
ENST00000510690.2:n.509G>A
ENST00000328300.10:c.4015G>A	ENSP00000331902.6:p.Gly1339Ser
ENST00000361603.6:c.3997G>A	ENSP00000354505.2:p.Gly1333Ser
ENST00000489230.1:n.418G>A
NM_000495.4:c.3997G>A	NP_000486.1:p.Gly1333Ser
NM_033380.2:c.4015G>A	NP_203699.1:p.Gly1339Ser
XM_005262070.2:c.4006G>A	XP_005262127.1:p.Gly1336Ser
XM_006724616.2:c.4015G>A	XP_006724679.1:p.Gly1339Ser
XM_011530849.1:c.3691G>A	XP_011529151.1:p.Gly1231Ser
XM_011530851.1:c.1588G>A	XP_011529153.1:p.Gly530Ser
XM_011530849.2:c.4030G>A	XP_011529151.2:p.Gly1344Ser
XM_017029259.2:c.4021G>A	XP_016884748.1:p.Gly1341Ser
XM_017029260.1:c.4012G>A	XP_016884749.1:p.Gly1338Ser
XM_017029263.2:c.2350G>A	XP_016884752.1:p.Gly784Ser
NM_000495.5:c.3997G>A	NP_000486.1:p.Gly1333Ser
NM_033380.3:c.4015G>A MANE Select	NP_203699.1:p.Gly1339Ser