Canonical Allele Identifier: CA414132384

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 447212
• ClinVar RCV Id: RCV000518636
• dbSNP Id: rs1556462917
• MyVariant Identifiers: chrX:g.107938036G>C (hg19) ; chrX:g.108694806G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694806G>C , CM000685.2:g.108694806G>C	GRCh38
NC_000023.10:g.107938036G>C , CM000685.1:g.107938036G>C	GRCh37
NC_000023.9:g.107824692G>C	NCBI36
NG_011977.1:g.259883G>C
NG_011977.2:g.259883G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4707-1G>C MANE Select	ENSP00000331902.7:n.4707-1G>C
ENST00000361603.7:c.4689-1G>C	ENSP00000354505.2:n.4689-1G>C
ENST00000510690.2:n.1201-1G>C
ENST00000644079.1:n.1192G>C
ENST00000328300.10:c.4707-1G>C	ENSP00000331902.6:n.4707-1G>C
ENST00000361603.6:c.4689-1G>C	ENSP00000354505.2:n.4689-1G>C
ENST00000504541.1:c.105-1G>C	ENSP00000424845.1:n.105-1G>C
ENST00000515658.1:c.325-1491G>C
NM_000495.4:c.4689-1G>C	NP_000486.1:n.4689-1G>C
NM_033380.2:c.4707-1G>C	NP_203699.1:n.4707-1G>C
XM_005262070.2:c.4698-1G>C	XP_005262127.1:n.4698-1G>C
XM_006724616.2:c.4707-1G>C	XP_006724679.1:n.4707-1G>C
XM_011530849.1:c.4383-1G>C	XP_011529151.1:n.4383-1G>C
XM_011530851.1:c.2280-1G>C	XP_011529153.1:n.2280-1G>C
XM_011530849.2:c.4722-1G>C	XP_011529151.2:n.4722-1G>C
XM_017029259.2:c.4713-1G>C	XP_016884748.1:n.4713-1G>C
XM_017029260.1:c.4704-1G>C	XP_016884749.1:n.4704-1G>C
XM_017029263.2:c.3042-1G>C	XP_016884752.1:n.3042-1G>C
NM_000495.5:c.4689-1G>C	NP_000486.1:n.4689-1G>C
NM_033380.3:c.4707-1G>C MANE Select	NP_203699.1:n.4707-1G>C