Canonical Allele Identifier: CA388726543

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110864929C>A (hg19) ; chr13:g.110212582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212582C>A , CM000675.2:g.110212582C>A	GRCh38
NC_000013.10:g.110864929C>A , CM000675.1:g.110864929C>A	GRCh37
NC_000013.9:g.109662930C>A	NCBI36
NG_011544.2:g.99568G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.316G>T MANE Select	ENSP00000364979.4:p.Gly106Ter
ENST00000543140.6:c.316G>T	ENSP00000443348.1:p.Gly106Ter
ENST00000615732.2:c.124G>T	ENSP00000478222.2:p.Gly42Ter
ENST00000647797.1:c.195G>T
ENST00000648170.1:n.195G>T
ENST00000648966.1:c.195G>T
ENST00000649484.1:c.195G>T
ENST00000649738.1:n.446G>T
ENST00000650138.1:n.5G>T
ENST00000375820.8:c.316G>T	ENSP00000364979.4:p.Gly106Ter
ENST00000543140.5:c.316G>T	ENSP00000443348.1:p.Gly106Ter
ENST00000615732.1:c.124G>T	ENSP00000478222.1:p.Gly42Ter
NM_001303110.1:c.316G>T	NP_001290039.1:p.Gly106Ter
NM_001845.5:c.316G>T	NP_001836.3:p.Gly106Ter
XM_011521048.1:c.124G>T	XP_011519350.1:p.Gly42Ter
XM_011521048.2:c.124G>T	XP_011519350.1:p.Gly42Ter
NM_001845.6:c.316G>T MANE Select	NP_001836.3:p.Gly106Ter
NM_001303110.2:c.316G>T	NP_001290039.1:p.Gly106Ter