Canonical Allele Identifier: CA413854083

Gene: COL4A5

Linked Data

• COSMIC: COSM5769564 ; COSM5769565
• MyVariant Identifiers: chrX:g.107930762C>G (hg19) ; chrX:g.108687532C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687532C>G , CM000685.2:g.108687532C>G	GRCh38
NC_000023.10:g.107930762C>G , CM000685.1:g.107930762C>G	GRCh37
NC_000023.9:g.107817418C>G	NCBI36
NG_011977.1:g.252609C>G
NG_011977.2:g.252609C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4366C>G MANE Select	ENSP00000331902.7:p.Pro1456Ala
ENST00000361603.7:c.4348C>G	ENSP00000354505.2:p.Pro1450Ala
ENST00000510690.2:n.860C>G
ENST00000328300.10:c.4366C>G	ENSP00000331902.6:p.Pro1456Ala
ENST00000361603.6:c.4348C>G	ENSP00000354505.2:p.Pro1450Ala
ENST00000515658.1:c.162C>G
NM_000495.4:c.4348C>G	NP_000486.1:p.Pro1450Ala
NM_033380.2:c.4366C>G	NP_203699.1:p.Pro1456Ala
XM_005262070.2:c.4357C>G	XP_005262127.1:p.Pro1453Ala
XM_006724616.2:c.4366C>G	XP_006724679.1:p.Pro1456Ala
XM_011530849.1:c.4042C>G	XP_011529151.1:p.Pro1348Ala
XM_011530851.1:c.1939C>G	XP_011529153.1:p.Pro647Ala
XM_011530849.2:c.4381C>G	XP_011529151.2:p.Pro1461Ala
XM_017029259.2:c.4372C>G	XP_016884748.1:p.Pro1458Ala
XM_017029260.1:c.4363C>G	XP_016884749.1:p.Pro1455Ala
XM_017029263.2:c.2701C>G	XP_016884752.1:p.Pro901Ala
NM_000495.5:c.4348C>G	NP_000486.1:p.Pro1450Ala
NM_033380.3:c.4366C>G MANE Select	NP_203699.1:p.Pro1456Ala