Canonical Allele Identifier: CA7047913

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 2046426
• ClinVar RCV Id: RCV002886638
• dbSNP Id: rs774417096
• ExAC: 13:110844636 C / T
• gnomAD v2: 13-110844636-C-T
• gnomAD v3: 13-110192289-C-T
• gnomAD v4: 13-110192289-C-T
• COSMIC: COSM5075523 ; COSM5075524
• MyVariant Identifiers: chr13:g.110844636C>T (hg19) ; chr13:g.110192289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192289C>T , CM000675.2:g.110192289C>T	GRCh38
NC_000013.10:g.110844636C>T , CM000675.1:g.110844636C>T	GRCh37
NC_000013.9:g.109642637C>T	NCBI36
NG_011544.2:g.119861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-5G>A MANE Select	ENSP00000364979.4:n.1466-5G>A
ENST00000543140.6:c.1466-5G>A	ENSP00000443348.1:n.1466-5G>A
ENST00000649738.1:n.1596-5G>A
ENST00000375820.8:c.1466-5G>A	ENSP00000364979.4:n.1466-5G>A
ENST00000543140.5:c.1466-5G>A	ENSP00000443348.1:n.1466-5G>A
NM_001303110.1:c.1466-5G>A	NP_001290039.1:n.1466-5G>A
NM_001845.5:c.1466-5G>A	NP_001836.3:n.1466-5G>A
XM_011521048.1:c.1274-5G>A	XP_011519350.1:n.1274-5G>A
XM_011521048.2:c.1274-5G>A	XP_011519350.1:n.1274-5G>A
NM_001845.6:c.1466-5G>A MANE Select	NP_001836.3:n.1466-5G>A
NM_001303110.2:c.1466-5G>A	NP_001290039.1:n.1466-5G>A