Canonical Allele Identifier: CA413850448

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920806A>C (hg19) ; chrX:g.108677576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677576A>C , CM000685.2:g.108677576A>C	GRCh38
NC_000023.10:g.107920806A>C , CM000685.1:g.107920806A>C	GRCh37
NC_000023.9:g.107807462A>C	NCBI36
NG_011977.1:g.242653A>C
NG_011977.2:g.242653A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3885A>C MANE Select	ENSP00000331902.7:p.Gln1295His
ENST00000361603.7:c.3867A>C	ENSP00000354505.2:p.Gln1289His
ENST00000510690.2:n.379A>C
ENST00000328300.10:c.3885A>C	ENSP00000331902.6:p.Gln1295His
ENST00000361603.6:c.3867A>C	ENSP00000354505.2:p.Gln1289His
ENST00000489230.1:n.288A>C
ENST00000510690.1:n.379A>C
NM_000495.4:c.3867A>C	NP_000486.1:p.Gln1289His
NM_033380.2:c.3885A>C	NP_203699.1:p.Gln1295His
XM_005262070.2:c.3876A>C	XP_005262127.1:p.Gln1292His
XM_006724616.2:c.3885A>C	XP_006724679.1:p.Gln1295His
XM_011530849.1:c.3561A>C	XP_011529151.1:p.Gln1187His
XM_011530851.1:c.1458A>C	XP_011529153.1:p.Gln486His
XM_011530849.2:c.3900A>C	XP_011529151.2:p.Gln1300His
XM_017029259.2:c.3891A>C	XP_016884748.1:p.Gln1297His
XM_017029260.1:c.3882A>C	XP_016884749.1:p.Gln1294His
XM_017029261.1:c.3900A>C	XP_016884750.1:p.Gln1300His
XM_017029263.2:c.2220A>C	XP_016884752.1:p.Gln740His
NM_000495.5:c.3867A>C	NP_000486.1:p.Gln1289His
NM_033380.3:c.3885A>C MANE Select	NP_203699.1:p.Gln1295His