Canonical Allele Identifier: CA413850042

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1324124
• ClinVar RCV Id: RCV001780829 ; RCV003718424
• dbSNP Id: rs2147974770
• MyVariant Identifiers: chrX:g.107920730G>A (hg19) ; chrX:g.108677500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677500G>A , CM000685.2:g.108677500G>A	GRCh38
NC_000023.10:g.107920730G>A , CM000685.1:g.107920730G>A	GRCh37
NC_000023.9:g.107807386G>A	NCBI36
NG_011977.1:g.242577G>A
NG_011977.2:g.242577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3809G>A MANE Select	ENSP00000331902.7:p.Gly1270Asp
ENST00000361603.7:c.3791G>A	ENSP00000354505.2:p.Gly1264Asp
ENST00000510690.2:n.303G>A
ENST00000328300.10:c.3809G>A	ENSP00000331902.6:p.Gly1270Asp
ENST00000361603.6:c.3791G>A	ENSP00000354505.2:p.Gly1264Asp
ENST00000489230.1:n.212G>A
ENST00000510690.1:n.303G>A
NM_000495.4:c.3791G>A	NP_000486.1:p.Gly1264Asp
NM_033380.2:c.3809G>A	NP_203699.1:p.Gly1270Asp
XM_005262070.2:c.3800G>A	XP_005262127.1:p.Gly1267Asp
XM_006724616.2:c.3809G>A	XP_006724679.1:p.Gly1270Asp
XM_011530849.1:c.3485G>A	XP_011529151.1:p.Gly1162Asp
XM_011530851.1:c.1382G>A	XP_011529153.1:p.Gly461Asp
XM_011530849.2:c.3824G>A	XP_011529151.2:p.Gly1275Asp
XM_017029259.2:c.3815G>A	XP_016884748.1:p.Gly1272Asp
XM_017029260.1:c.3806G>A	XP_016884749.1:p.Gly1269Asp
XM_017029261.1:c.3824G>A	XP_016884750.1:p.Gly1275Asp
XM_017029263.2:c.2144G>A	XP_016884752.1:p.Gly715Asp
NM_000495.5:c.3791G>A	NP_000486.1:p.Gly1264Asp
NM_033380.3:c.3809G>A MANE Select	NP_203699.1:p.Gly1270Asp