Canonical Allele Identifier: CA388726564

Gene: COL4A1

Linked Data

• dbSNP Id: rs1355964819
• gnomAD v3: 13-110212587-T-C
• gnomAD v4: 13-110212587-T-C
• MyVariant Identifiers: chr13:g.110864934T>C (hg19) ; chr13:g.110212587T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.311A>G MANE Select	ENSP00000364979.4:p.Asn104Ser
ENST00000543140.6:c.311A>G	ENSP00000443348.1:p.Asn104Ser
ENST00000615732.2:c.119A>G	ENSP00000478222.2:p.Asn40Ser
ENST00000647797.1:c.190A>G
ENST00000648170.1:n.190A>G
ENST00000648966.1:c.190A>G
ENST00000649484.1:c.190A>G
ENST00000649738.1:n.441A>G
ENST00000375820.8:c.311A>G	ENSP00000364979.4:p.Asn104Ser
ENST00000543140.5:c.311A>G	ENSP00000443348.1:p.Asn104Ser
ENST00000615732.1:c.119A>G	ENSP00000478222.1:p.Asn40Ser
NM_001303110.1:c.311A>G	NP_001290039.1:p.Asn104Ser
NM_001845.5:c.311A>G	NP_001836.3:p.Asn104Ser
XM_011521048.1:c.119A>G	XP_011519350.1:p.Asn40Ser
XM_011521048.2:c.119A>G	XP_011519350.1:p.Asn40Ser
NM_001845.6:c.311A>G MANE Select	NP_001836.3:p.Asn104Ser
NM_001303110.2:c.311A>G	NP_001290039.1:p.Asn104Ser