Canonical Allele Identifier: CA2118754613

Gene: COL4A1

Linked Data

• dbSNP Id: rs1879871950

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212687C>A , CM000675.2:g.110212687C>A	GRCh38
NC_000013.10:g.110865034C>A , CM000675.1:g.110865034C>A	GRCh37
NC_000013.9:g.109663035C>A	NCBI36
NG_011544.2:g.99463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.280-69G>T MANE Select	ENSP00000364979.4:n.280-69G>T
ENST00000543140.6:c.280-69G>T	ENSP00000443348.1:n.280-69G>T
ENST00000615732.2:c.88-69G>T	ENSP00000478222.2:n.88-69G>T
ENST00000647797.1:c.159-69G>T
ENST00000648170.1:n.159-69G>T
ENST00000648966.1:c.159-69G>T
ENST00000649484.1:c.159-69G>T
ENST00000649738.1:n.410-69G>T
ENST00000375820.8:c.280-69G>T	ENSP00000364979.4:n.280-69G>T
ENST00000543140.5:c.280-69G>T	ENSP00000443348.1:n.280-69G>T
ENST00000615732.1:c.88-69G>T	ENSP00000478222.1:n.88-69G>T
NM_001303110.1:c.280-69G>T	NP_001290039.1:n.280-69G>T
NM_001845.5:c.280-69G>T	NP_001836.3:n.280-69G>T
XM_011521048.1:c.88-69G>T	XP_011519350.1:n.88-69G>T
XM_011521048.2:c.88-69G>T	XP_011519350.1:n.88-69G>T
NM_001845.6:c.280-69G>T MANE Select	NP_001836.3:n.280-69G>T
NM_001303110.2:c.280-69G>T	NP_001290039.1:n.280-69G>T