Canonical Allele Identifier: CA258193

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24214
• ClinVar RCV Id: RCV000021092 ; RCV001381883
• dbSNP Id: rs104886050
• MyVariant Identifiers: chrX:g.107683356A>G (hg19) ; chrX:g.108440126A>G (hg38)
• PubMed: PMID:9195222

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440126A>G , CM000685.2:g.108440126A>G	GRCh38
NC_000023.10:g.107683356A>G , CM000685.1:g.107683356A>G	GRCh37
NC_000023.9:g.107570012A>G	NCBI36
NG_011977.1:g.5203A>G
NG_012059.2:g.4349T>C
NG_011977.2:g.5203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1A>G MANE Select	ENSP00000331902.7:p.Met1Val
ENST00000361603.7:c.1A>G	ENSP00000354505.2:p.Met1Val
ENST00000642185.1:c.1A>G	ENSP00000495101.1:p.Met1Val
ENST00000328300.10:c.1A>G	ENSP00000331902.6:p.Met1Val
ENST00000361603.6:c.1A>G	ENSP00000354505.2:p.Met1Val
ENST00000470339.1:n.185A>G
ENST00000477429.1:n.283A>G
NM_000495.4:c.1A>G	NP_000486.1:p.Met1Val
NM_033380.2:c.1A>G	NP_203699.1:p.Met1Val
XM_005262070.2:c.1A>G	XP_005262127.1:p.Met1Val
XM_005262072.3:c.1A>G	XP_005262129.1:p.Met1Val
XM_006724616.2:c.1A>G	XP_006724679.1:p.Met1Val
XM_011530850.1:c.1A>G	XP_011529152.1:p.Met1Val
NM_000495.5:c.1A>G	NP_000486.1:p.Met1Val
NM_033380.3:c.1A>G MANE Select	NP_203699.1:p.Met1Val