Canonical Allele Identifier: CA413851150

Gene: COL4A5

Linked Data

• COSMIC: COSM3964559 ; COSM3964560
• MyVariant Identifiers: chrX:g.107924144T>C (hg19) ; chrX:g.108680914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680914T>C , CM000685.2:g.108680914T>C	GRCh38
NC_000023.10:g.107924144T>C , CM000685.1:g.107924144T>C	GRCh37
NC_000023.9:g.107810800T>C	NCBI36
NG_011977.1:g.245991T>C
NG_011977.2:g.245991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4045T>C MANE Select	ENSP00000331902.7:p.Ser1349Pro
ENST00000361603.7:c.4027T>C	ENSP00000354505.2:p.Ser1343Pro
ENST00000510690.2:n.539T>C
ENST00000328300.10:c.4045T>C	ENSP00000331902.6:p.Ser1349Pro
ENST00000361603.6:c.4027T>C	ENSP00000354505.2:p.Ser1343Pro
ENST00000489230.1:n.448T>C
NM_000495.4:c.4027T>C	NP_000486.1:p.Ser1343Pro
NM_033380.2:c.4045T>C	NP_203699.1:p.Ser1349Pro
XM_005262070.2:c.4036T>C	XP_005262127.1:p.Ser1346Pro
XM_006724616.2:c.4045T>C	XP_006724679.1:p.Ser1349Pro
XM_011530849.1:c.3721T>C	XP_011529151.1:p.Ser1241Pro
XM_011530851.1:c.1618T>C	XP_011529153.1:p.Ser540Pro
XM_011530849.2:c.4060T>C	XP_011529151.2:p.Ser1354Pro
XM_017029259.2:c.4051T>C	XP_016884748.1:p.Ser1351Pro
XM_017029260.1:c.4042T>C	XP_016884749.1:p.Ser1348Pro
XM_017029263.2:c.2380T>C	XP_016884752.1:p.Ser794Pro
NM_000495.5:c.4027T>C	NP_000486.1:p.Ser1343Pro
NM_033380.3:c.4045T>C MANE Select	NP_203699.1:p.Ser1349Pro