Canonical Allele Identifier: CA16606390

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 379845
• ClinVar RCV Id: RCV000437521 ; RCV000623415 ; RCV002283479 ; RCV002502498
• dbSNP Id: rs672601347
• MyVariant Identifiers: chr13:g.110831645C>T (hg19) ; chr13:g.110179298C>T (hg38)
• PubMed: PMID:6428250 ; PMID:12525718 ; PMID:15882279 ; PMID:15905400 ; PMID:16107487 ; PMID:16374828 ; PMID:16598045 ; PMID:17696175 ; PMID:17938367 ; PMID:18160688 ; PMID:19194877 ; PMID:19840616 ; PMID:19949034 ; PMID:21625620 ; PMID:22574627 ; PMID:23065703 ; PMID:23394911 ; PMID:26220970

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179298C>T , CM000675.2:g.110179298C>T	GRCh38
NC_000013.10:g.110831645C>T , CM000675.1:g.110831645C>T	GRCh37
NC_000013.9:g.109629646C>T	NCBI36
NG_011544.2:g.132852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2317G>A MANE Select	ENSP00000364979.4:p.Gly773Arg
ENST00000649738.1:n.2447G>A
ENST00000375820.8:c.2317G>A	ENSP00000364979.4:p.Gly773Arg
NM_001845.5:c.2317G>A	NP_001836.3:p.Gly773Arg
XM_011521048.1:c.2125G>A	XP_011519350.1:p.Gly709Arg
XM_011521048.2:c.2125G>A	XP_011519350.1:p.Gly709Arg
NM_001845.6:c.2317G>A MANE Select	NP_001836.3:p.Gly773Arg