Canonical Allele Identifier: CA413851889

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2080989
• ClinVar RCV Id: RCV002993938
• MyVariant Identifiers: chrX:g.107924996C>T (hg19) ; chrX:g.108681766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681766C>T , CM000685.2:g.108681766C>T	GRCh38
NC_000023.10:g.107924996C>T , CM000685.1:g.107924996C>T	GRCh37
NC_000023.9:g.107811652C>T	NCBI36
NG_011977.1:g.246843C>T
NG_011977.2:g.246843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4094C>T MANE Select	ENSP00000331902.7:p.Pro1365Leu
ENST00000361603.7:c.4076C>T	ENSP00000354505.2:p.Pro1359Leu
ENST00000510690.2:n.588C>T
ENST00000328300.10:c.4094C>T	ENSP00000331902.6:p.Pro1365Leu
ENST00000361603.6:c.4076C>T	ENSP00000354505.2:p.Pro1359Leu
ENST00000489230.1:n.497C>T
NM_000495.4:c.4076C>T	NP_000486.1:p.Pro1359Leu
NM_033380.2:c.4094C>T	NP_203699.1:p.Pro1365Leu
XM_005262070.2:c.4085C>T	XP_005262127.1:p.Pro1362Leu
XM_006724616.2:c.4094C>T	XP_006724679.1:p.Pro1365Leu
XM_011530849.1:c.3770C>T	XP_011529151.1:p.Pro1257Leu
XM_011530851.1:c.1667C>T	XP_011529153.1:p.Pro556Leu
XM_011530849.2:c.4109C>T	XP_011529151.2:p.Pro1370Leu
XM_017029259.2:c.4100C>T	XP_016884748.1:p.Pro1367Leu
XM_017029260.1:c.4091C>T	XP_016884749.1:p.Pro1364Leu
XM_017029263.2:c.2429C>T	XP_016884752.1:p.Pro810Leu
NM_000495.5:c.4076C>T	NP_000486.1:p.Pro1359Leu
NM_033380.3:c.4094C>T MANE Select	NP_203699.1:p.Pro1365Leu