Canonical Allele Identifier: CA414132998

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1030830
• ClinVar RCV Id: RCV001332500
• dbSNP Id: rs1316943771
• MyVariant Identifiers: chrX:g.107938662A>G (hg19) ; chrX:g.108695432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695432A>G , CM000685.2:g.108695432A>G	GRCh38
NC_000023.10:g.107938662A>G , CM000685.1:g.107938662A>G	GRCh37
NC_000023.9:g.107825318A>G	NCBI36
NG_011977.1:g.260509A>G
NG_011977.2:g.260509A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4987A>G MANE Select	ENSP00000331902.7:p.Met1663Val
ENST00000361603.7:c.4969A>G	ENSP00000354505.2:p.Met1657Val
ENST00000510690.2:n.1481A>G
ENST00000644079.1:n.1818A>G
ENST00000328300.10:c.4987A>G	ENSP00000331902.6:p.Met1663Val
ENST00000361603.6:c.4969A>G	ENSP00000354505.2:p.Met1657Val
ENST00000504541.1:c.219+511A>G	ENSP00000424845.1:n.219+511A>G
ENST00000515658.1:c.325-865A>G
NM_000495.4:c.4969A>G	NP_000486.1:p.Met1657Val
NM_033380.2:c.4987A>G	NP_203699.1:p.Met1663Val
XM_005262070.2:c.4978A>G	XP_005262127.1:p.Met1660Val
XM_006724616.2:c.4987A>G	XP_006724679.1:p.Met1663Val
XM_011530849.1:c.4663A>G	XP_011529151.1:p.Met1555Val
XM_011530851.1:c.2560A>G	XP_011529153.1:p.Met854Val
XM_011530849.2:c.5002A>G	XP_011529151.2:p.Met1668Val
XM_017029259.2:c.4993A>G	XP_016884748.1:p.Met1665Val
XM_017029260.1:c.4984A>G	XP_016884749.1:p.Met1662Val
XM_017029263.2:c.3322A>G	XP_016884752.1:p.Met1108Val
NM_000495.5:c.4969A>G	NP_000486.1:p.Met1657Val
NM_033380.3:c.4987A>G MANE Select	NP_203699.1:p.Met1663Val