Canonical Allele Identifier: CA414132746

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 932612
• ClinVar RCV Id: RCV001200510
• dbSNP Id: rs2068715609
• MyVariant Identifiers: chrX:g.107938551T>A (hg19) ; chrX:g.108695321T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695321T>A , CM000685.2:g.108695321T>A	GRCh38
NC_000023.10:g.107938551T>A , CM000685.1:g.107938551T>A	GRCh37
NC_000023.9:g.107825207T>A	NCBI36
NG_011977.1:g.260398T>A
NG_011977.2:g.260398T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4876T>A MANE Select	ENSP00000331902.7:p.Cys1626Ser
ENST00000361603.7:c.4858T>A	ENSP00000354505.2:p.Cys1620Ser
ENST00000510690.2:n.1370T>A
ENST00000644079.1:n.1707T>A
ENST00000328300.10:c.4876T>A	ENSP00000331902.6:p.Cys1626Ser
ENST00000361603.6:c.4858T>A	ENSP00000354505.2:p.Cys1620Ser
ENST00000504541.1:c.219+400T>A	ENSP00000424845.1:n.219+400T>A
ENST00000515658.1:c.325-976T>A
NM_000495.4:c.4858T>A	NP_000486.1:p.Cys1620Ser
NM_033380.2:c.4876T>A	NP_203699.1:p.Cys1626Ser
XM_005262070.2:c.4867T>A	XP_005262127.1:p.Cys1623Ser
XM_006724616.2:c.4876T>A	XP_006724679.1:p.Cys1626Ser
XM_011530849.1:c.4552T>A	XP_011529151.1:p.Cys1518Ser
XM_011530851.1:c.2449T>A	XP_011529153.1:p.Cys817Ser
XM_011530849.2:c.4891T>A	XP_011529151.2:p.Cys1631Ser
XM_017029259.2:c.4882T>A	XP_016884748.1:p.Cys1628Ser
XM_017029260.1:c.4873T>A	XP_016884749.1:p.Cys1625Ser
XM_017029263.2:c.3211T>A	XP_016884752.1:p.Cys1071Ser
NM_000495.5:c.4858T>A	NP_000486.1:p.Cys1620Ser
NM_033380.3:c.4876T>A MANE Select	NP_203699.1:p.Cys1626Ser