Canonical Allele Identifier: CA414132668

Gene: COL4A5

Linked Data

• COSMIC: COSM4549742 ; COSM4549743
• MyVariant Identifiers: chrX:g.107938510G>C (hg19) ; chrX:g.108695280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695280G>C , CM000685.2:g.108695280G>C	GRCh38
NC_000023.10:g.107938510G>C , CM000685.1:g.107938510G>C	GRCh37
NC_000023.9:g.107825166G>C	NCBI36
NG_011977.1:g.260357G>C
NG_011977.2:g.260357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4835G>C MANE Select	ENSP00000331902.7:p.Gly1612Ala
ENST00000361603.7:c.4817G>C	ENSP00000354505.2:p.Gly1606Ala
ENST00000510690.2:n.1329G>C
ENST00000644079.1:n.1666G>C
ENST00000328300.10:c.4835G>C	ENSP00000331902.6:p.Gly1612Ala
ENST00000361603.6:c.4817G>C	ENSP00000354505.2:p.Gly1606Ala
ENST00000504541.1:c.219+359G>C	ENSP00000424845.1:n.219+359G>C
ENST00000515658.1:c.325-1017G>C
NM_000495.4:c.4817G>C	NP_000486.1:p.Gly1606Ala
NM_033380.2:c.4835G>C	NP_203699.1:p.Gly1612Ala
XM_005262070.2:c.4826G>C	XP_005262127.1:p.Gly1609Ala
XM_006724616.2:c.4835G>C	XP_006724679.1:p.Gly1612Ala
XM_011530849.1:c.4511G>C	XP_011529151.1:p.Gly1504Ala
XM_011530851.1:c.2408G>C	XP_011529153.1:p.Gly803Ala
XM_011530849.2:c.4850G>C	XP_011529151.2:p.Gly1617Ala
XM_017029259.2:c.4841G>C	XP_016884748.1:p.Gly1614Ala
XM_017029260.1:c.4832G>C	XP_016884749.1:p.Gly1611Ala
XM_017029263.2:c.3170G>C	XP_016884752.1:p.Gly1057Ala
NM_000495.5:c.4817G>C	NP_000486.1:p.Gly1606Ala
NM_033380.3:c.4835G>C MANE Select	NP_203699.1:p.Gly1612Ala