Canonical Allele Identifier: CA7048113

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 311065
• ClinVar RCV Id: RCV000301533 ; RCV000342443 ; RCV000484841 ; RCV000766812 ; RCV002248582 ; RCV004537764
• dbSNP Id: rs75711155
• ExAC: 13:110853874 A / C
• gnomAD v2: 13-110853874-A-C
• gnomAD v3: 13-110201527-A-C
• gnomAD v4: 13-110201527-A-C
• MyVariant Identifiers: chr13:g.110853874A>C (hg19) ; chr13:g.110201527A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110201527A>C , CM000675.2:g.110201527A>C	GRCh38
NC_000013.10:g.110853874A>C , CM000675.1:g.110853874A>C	GRCh37
NC_000013.9:g.109651875A>C	NCBI36
NG_011544.2:g.110623T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1000-5T>G MANE Select	ENSP00000364979.4:n.1000-5T>G
ENST00000543140.6:c.1000-5T>G	ENSP00000443348.1:n.1000-5T>G
ENST00000647797.1:c.879-5T>G
ENST00000649738.1:n.1130-5T>G
ENST00000375820.8:c.1000-5T>G	ENSP00000364979.4:n.1000-5T>G
ENST00000543140.5:c.1000-5T>G	ENSP00000443348.1:n.1000-5T>G
NM_001303110.1:c.1000-5T>G	NP_001290039.1:n.1000-5T>G
NM_001845.5:c.1000-5T>G	NP_001836.3:n.1000-5T>G
XM_011521048.1:c.808-5T>G	XP_011519350.1:n.808-5T>G
XM_011521048.2:c.808-5T>G	XP_011519350.1:n.808-5T>G
NM_001845.6:c.1000-5T>G MANE Select	NP_001836.3:n.1000-5T>G
NM_001303110.2:c.1000-5T>G	NP_001290039.1:n.1000-5T>G