Canonical Allele Identifier: CA413851103

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 984065
• ClinVar RCV Id: RCV001264070
• dbSNP Id: rs2068413590
• MyVariant Identifiers: chrX:g.107924120A>T (hg19) ; chrX:g.108680890A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680890A>T , CM000685.2:g.108680890A>T	GRCh38
NC_000023.10:g.107924120A>T , CM000685.1:g.107924120A>T	GRCh37
NC_000023.9:g.107810776A>T	NCBI36
NG_011977.1:g.245967A>T
NG_011977.2:g.245967A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4021A>T MANE Select	ENSP00000331902.7:p.Lys1341Ter
ENST00000361603.7:c.4003A>T	ENSP00000354505.2:p.Lys1335Ter
ENST00000510690.2:n.515A>T
ENST00000328300.10:c.4021A>T	ENSP00000331902.6:p.Lys1341Ter
ENST00000361603.6:c.4003A>T	ENSP00000354505.2:p.Lys1335Ter
ENST00000489230.1:n.424A>T
NM_000495.4:c.4003A>T	NP_000486.1:p.Lys1335Ter
NM_033380.2:c.4021A>T	NP_203699.1:p.Lys1341Ter
XM_005262070.2:c.4012A>T	XP_005262127.1:p.Lys1338Ter
XM_006724616.2:c.4021A>T	XP_006724679.1:p.Lys1341Ter
XM_011530849.1:c.3697A>T	XP_011529151.1:p.Lys1233Ter
XM_011530851.1:c.1594A>T	XP_011529153.1:p.Lys532Ter
XM_011530849.2:c.4036A>T	XP_011529151.2:p.Lys1346Ter
XM_017029259.2:c.4027A>T	XP_016884748.1:p.Lys1343Ter
XM_017029260.1:c.4018A>T	XP_016884749.1:p.Lys1340Ter
XM_017029263.2:c.2356A>T	XP_016884752.1:p.Lys786Ter
NM_000495.5:c.4003A>T	NP_000486.1:p.Lys1335Ter
NM_033380.3:c.4021A>T MANE Select	NP_203699.1:p.Lys1341Ter