Canonical Allele Identifier: CA388726566

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110864934T>G (hg19) ; chr13:g.110212587T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212587T>G , CM000675.2:g.110212587T>G	GRCh38
NC_000013.10:g.110864934T>G , CM000675.1:g.110864934T>G	GRCh37
NC_000013.9:g.109662935T>G	NCBI36
NG_011544.2:g.99563A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.311A>C MANE Select	ENSP00000364979.4:p.Asn104Thr
ENST00000543140.6:c.311A>C	ENSP00000443348.1:p.Asn104Thr
ENST00000615732.2:c.119A>C	ENSP00000478222.2:p.Asn40Thr
ENST00000647797.1:c.190A>C
ENST00000648170.1:n.190A>C
ENST00000648966.1:c.190A>C
ENST00000649484.1:c.190A>C
ENST00000649738.1:n.441A>C
ENST00000375820.8:c.311A>C	ENSP00000364979.4:p.Asn104Thr
ENST00000543140.5:c.311A>C	ENSP00000443348.1:p.Asn104Thr
ENST00000615732.1:c.119A>C	ENSP00000478222.1:p.Asn40Thr
NM_001303110.1:c.311A>C	NP_001290039.1:p.Asn104Thr
NM_001845.5:c.311A>C	NP_001836.3:p.Asn104Thr
XM_011521048.1:c.119A>C	XP_011519350.1:p.Asn40Thr
XM_011521048.2:c.119A>C	XP_011519350.1:p.Asn40Thr
NM_001845.6:c.311A>C MANE Select	NP_001836.3:p.Asn104Thr
NM_001303110.2:c.311A>C	NP_001290039.1:p.Asn104Thr