Canonical Allele Identifier: CA414132915

Gene: COL4A5

Linked Data

• COSMIC: COSM5938473 ; COSM5938474
• MyVariant Identifiers: chrX:g.107938624C>T (hg19) ; chrX:g.108695394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695394C>T , CM000685.2:g.108695394C>T	GRCh38
NC_000023.10:g.107938624C>T , CM000685.1:g.107938624C>T	GRCh37
NC_000023.9:g.107825280C>T	NCBI36
NG_011977.1:g.260471C>T
NG_011977.2:g.260471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4949C>T MANE Select	ENSP00000331902.7:p.Ser1650Phe
ENST00000361603.7:c.4931C>T	ENSP00000354505.2:p.Ser1644Phe
ENST00000510690.2:n.1443C>T
ENST00000644079.1:n.1780C>T
ENST00000328300.10:c.4949C>T	ENSP00000331902.6:p.Ser1650Phe
ENST00000361603.6:c.4931C>T	ENSP00000354505.2:p.Ser1644Phe
ENST00000504541.1:c.219+473C>T	ENSP00000424845.1:n.219+473C>T
ENST00000515658.1:c.325-903C>T
NM_000495.4:c.4931C>T	NP_000486.1:p.Ser1644Phe
NM_033380.2:c.4949C>T	NP_203699.1:p.Ser1650Phe
XM_005262070.2:c.4940C>T	XP_005262127.1:p.Ser1647Phe
XM_006724616.2:c.4949C>T	XP_006724679.1:p.Ser1650Phe
XM_011530849.1:c.4625C>T	XP_011529151.1:p.Ser1542Phe
XM_011530851.1:c.2522C>T	XP_011529153.1:p.Ser841Phe
XM_011530849.2:c.4964C>T	XP_011529151.2:p.Ser1655Phe
XM_017029259.2:c.4955C>T	XP_016884748.1:p.Ser1652Phe
XM_017029260.1:c.4946C>T	XP_016884749.1:p.Ser1649Phe
XM_017029263.2:c.3284C>T	XP_016884752.1:p.Ser1095Phe
NM_000495.5:c.4931C>T	NP_000486.1:p.Ser1644Phe
NM_033380.3:c.4949C>T MANE Select	NP_203699.1:p.Ser1650Phe