Canonical Allele Identifier: CA388726465

Gene: COL4A1

Linked Data

• dbSNP Id: rs1879855780
• MyVariant Identifiers: chr13:g.110864823T>C (hg19) ; chr13:g.110212476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212476T>C , CM000675.2:g.110212476T>C	GRCh38
NC_000013.10:g.110864823T>C , CM000675.1:g.110864823T>C	GRCh37
NC_000013.9:g.109662824T>C	NCBI36
NG_011544.2:g.99674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.328A>G MANE Select	ENSP00000364979.4:p.Ile110Val
ENST00000543140.6:c.328A>G	ENSP00000443348.1:p.Ile110Val
ENST00000615732.2:c.136A>G	ENSP00000478222.2:p.Ile46Val
ENST00000647797.1:c.207A>G
ENST00000648170.1:n.207A>G
ENST00000648966.1:c.207A>G
ENST00000649484.1:c.207A>G
ENST00000649738.1:n.458A>G
ENST00000650138.1:n.17A>G
ENST00000375820.8:c.328A>G	ENSP00000364979.4:p.Ile110Val
ENST00000543140.5:c.328A>G	ENSP00000443348.1:p.Ile110Val
ENST00000615732.1:c.136A>G	ENSP00000478222.1:p.Ile46Val
NM_001303110.1:c.328A>G	NP_001290039.1:p.Ile110Val
NM_001845.5:c.328A>G	NP_001836.3:p.Ile110Val
XM_011521048.1:c.136A>G	XP_011519350.1:p.Ile46Val
XM_011521048.2:c.136A>G	XP_011519350.1:p.Ile46Val
NM_001845.6:c.328A>G MANE Select	NP_001836.3:p.Ile110Val
NM_001303110.2:c.328A>G	NP_001290039.1:p.Ile110Val