Canonical Allele Identifier: CA388723406

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110844607T>A (hg19) ; chr13:g.110192260T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192260T>A , CM000675.2:g.110192260T>A	GRCh38
NC_000013.10:g.110844607T>A , CM000675.1:g.110844607T>A	GRCh37
NC_000013.9:g.109642608T>A	NCBI36
NG_011544.2:g.119890A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1490A>T MANE Select	ENSP00000364979.4:p.Lys497Met
ENST00000543140.6:c.1490A>T	ENSP00000443348.1:p.Lys497Met
ENST00000649738.1:n.1620A>T
ENST00000375820.8:c.1490A>T	ENSP00000364979.4:p.Lys497Met
ENST00000543140.5:c.1490A>T	ENSP00000443348.1:p.Lys497Met
NM_001303110.1:c.1490A>T	NP_001290039.1:p.Lys497Met
NM_001845.5:c.1490A>T	NP_001836.3:p.Lys497Met
XM_011521048.1:c.1298A>T	XP_011519350.1:p.Lys433Met
XM_011521048.2:c.1298A>T	XP_011519350.1:p.Lys433Met
NM_001845.6:c.1490A>T MANE Select	NP_001836.3:p.Lys497Met
NM_001303110.2:c.1490A>T	NP_001290039.1:p.Lys497Met