Canonical Allele Identifier: CA414132794

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 438652
• ClinVar RCV Id: RCV000505600
• dbSNP Id: rs1556463567
• MyVariant Identifiers: chrX:g.107938570C>T (hg19) ; chrX:g.108695340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695340C>T , CM000685.2:g.108695340C>T	GRCh38
NC_000023.10:g.107938570C>T , CM000685.1:g.107938570C>T	GRCh37
NC_000023.9:g.107825226C>T	NCBI36
NG_011977.1:g.260417C>T
NG_011977.2:g.260417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4895C>T MANE Select	ENSP00000331902.7:p.Ser1632Leu
ENST00000361603.7:c.4877C>T	ENSP00000354505.2:p.Ser1626Leu
ENST00000510690.2:n.1389C>T
ENST00000644079.1:n.1726C>T
ENST00000328300.10:c.4895C>T	ENSP00000331902.6:p.Ser1632Leu
ENST00000361603.6:c.4877C>T	ENSP00000354505.2:p.Ser1626Leu
ENST00000504541.1:c.219+419C>T	ENSP00000424845.1:n.219+419C>T
ENST00000515658.1:c.325-957C>T
NM_000495.4:c.4877C>T	NP_000486.1:p.Ser1626Leu
NM_033380.2:c.4895C>T	NP_203699.1:p.Ser1632Leu
XM_005262070.2:c.4886C>T	XP_005262127.1:p.Ser1629Leu
XM_006724616.2:c.4895C>T	XP_006724679.1:p.Ser1632Leu
XM_011530849.1:c.4571C>T	XP_011529151.1:p.Ser1524Leu
XM_011530851.1:c.2468C>T	XP_011529153.1:p.Ser823Leu
XM_011530849.2:c.4910C>T	XP_011529151.2:p.Ser1637Leu
XM_017029259.2:c.4901C>T	XP_016884748.1:p.Ser1634Leu
XM_017029260.1:c.4892C>T	XP_016884749.1:p.Ser1631Leu
XM_017029263.2:c.3230C>T	XP_016884752.1:p.Ser1077Leu
NM_000495.5:c.4877C>T	NP_000486.1:p.Ser1626Leu
NM_033380.3:c.4895C>T MANE Select	NP_203699.1:p.Ser1632Leu