Canonical Allele Identifier: CA388723405

Gene: COL4A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1490A>C MANE Select	ENSP00000364979.4:p.Lys497Thr
ENST00000543140.6:c.1490A>C	ENSP00000443348.1:p.Lys497Thr
ENST00000649738.1:n.1620A>C
ENST00000375820.8:c.1490A>C	ENSP00000364979.4:p.Lys497Thr
ENST00000543140.5:c.1490A>C	ENSP00000443348.1:p.Lys497Thr
NM_001303110.1:c.1490A>C	NP_001290039.1:p.Lys497Thr
NM_001845.5:c.1490A>C	NP_001836.3:p.Lys497Thr
XM_011521048.1:c.1298A>C	XP_011519350.1:p.Lys433Thr
XM_011521048.2:c.1298A>C	XP_011519350.1:p.Lys433Thr
NM_001845.6:c.1490A>C MANE Select	NP_001836.3:p.Lys497Thr
NM_001303110.2:c.1490A>C	NP_001290039.1:p.Lys497Thr