Canonical Allele Identifier: CA413853786

Gene: COL4A5

Linked Data

• COSMIC: COSM3390374 ; COSM3390375
• MyVariant Identifiers: chrX:g.107929344C>G (hg19) ; chrX:g.108686114C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686114C>G , CM000685.2:g.108686114C>G	GRCh38
NC_000023.10:g.107929344C>G , CM000685.1:g.107929344C>G	GRCh37
NC_000023.9:g.107816000C>G	NCBI36
NG_011977.1:g.251191C>G
NG_011977.2:g.251191C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4300C>G MANE Select	ENSP00000331902.7:p.Leu1434Val
ENST00000361603.7:c.4282C>G	ENSP00000354505.2:p.Leu1428Val
ENST00000510690.2:n.794C>G
ENST00000328300.10:c.4300C>G	ENSP00000331902.6:p.Leu1434Val
ENST00000361603.6:c.4282C>G	ENSP00000354505.2:p.Leu1428Val
ENST00000489230.1:n.703C>G
ENST00000515658.1:c.96C>G
NM_000495.4:c.4282C>G	NP_000486.1:p.Leu1428Val
NM_033380.2:c.4300C>G	NP_203699.1:p.Leu1434Val
XM_005262070.2:c.4291C>G	XP_005262127.1:p.Leu1431Val
XM_006724616.2:c.4300C>G	XP_006724679.1:p.Leu1434Val
XM_011530849.1:c.3976C>G	XP_011529151.1:p.Leu1326Val
XM_011530851.1:c.1873C>G	XP_011529153.1:p.Leu625Val
XM_011530849.2:c.4315C>G	XP_011529151.2:p.Leu1439Val
XM_017029259.2:c.4306C>G	XP_016884748.1:p.Leu1436Val
XM_017029260.1:c.4297C>G	XP_016884749.1:p.Leu1433Val
XM_017029263.2:c.2635C>G	XP_016884752.1:p.Leu879Val
NM_000495.5:c.4282C>G	NP_000486.1:p.Leu1428Val
NM_033380.3:c.4300C>G MANE Select	NP_203699.1:p.Leu1434Val