Canonical Allele Identifier: CA2575473236

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139205831
• gnomAD v4: 13-110212682-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212682A>G , CM000675.2:g.110212682A>G	GRCh38
NC_000013.10:g.110865029A>G , CM000675.1:g.110865029A>G	GRCh37
NC_000013.9:g.109663030A>G	NCBI36
NG_011544.2:g.99468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.280-64T>C MANE Select	ENSP00000364979.4:n.280-64T>C
ENST00000543140.6:c.280-64T>C	ENSP00000443348.1:n.280-64T>C
ENST00000615732.2:c.88-64T>C	ENSP00000478222.2:n.88-64T>C
ENST00000647797.1:c.159-64T>C
ENST00000648170.1:n.159-64T>C
ENST00000648966.1:c.159-64T>C
ENST00000649484.1:c.159-64T>C
ENST00000649738.1:n.410-64T>C
ENST00000375820.8:c.280-64T>C	ENSP00000364979.4:n.280-64T>C
ENST00000543140.5:c.280-64T>C	ENSP00000443348.1:n.280-64T>C
ENST00000615732.1:c.88-64T>C	ENSP00000478222.1:n.88-64T>C
NM_001303110.1:c.280-64T>C	NP_001290039.1:n.280-64T>C
NM_001845.5:c.280-64T>C	NP_001836.3:n.280-64T>C
XM_011521048.1:c.88-64T>C	XP_011519350.1:n.88-64T>C
XM_011521048.2:c.88-64T>C	XP_011519350.1:n.88-64T>C
NM_001845.6:c.280-64T>C MANE Select	NP_001836.3:n.280-64T>C
NM_001303110.2:c.280-64T>C	NP_001290039.1:n.280-64T>C