Canonical Allele Identifier: CA388726536

Gene: COL4A1

Linked Data

• dbSNP Id: rs1427922815
• gnomAD v3: 13-110212579-G-C
• gnomAD v4: 13-110212579-G-C
• MyVariant Identifiers: chr13:g.110864926G>C (hg19) ; chr13:g.110212579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212579G>C , CM000675.2:g.110212579G>C	GRCh38
NC_000013.10:g.110864926G>C , CM000675.1:g.110864926G>C	GRCh37
NC_000013.9:g.109662927G>C	NCBI36
NG_011544.2:g.99571C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.319C>G MANE Select	ENSP00000364979.4:p.Leu107Val
ENST00000543140.6:c.319C>G	ENSP00000443348.1:p.Leu107Val
ENST00000615732.2:c.127C>G	ENSP00000478222.2:p.Leu43Val
ENST00000647797.1:c.198C>G
ENST00000648170.1:n.198C>G
ENST00000648966.1:c.198C>G
ENST00000649484.1:c.198C>G
ENST00000649738.1:n.449C>G
ENST00000650138.1:n.8C>G
ENST00000375820.8:c.319C>G	ENSP00000364979.4:p.Leu107Val
ENST00000543140.5:c.319C>G	ENSP00000443348.1:p.Leu107Val
ENST00000615732.1:c.127C>G	ENSP00000478222.1:p.Leu43Val
NM_001303110.1:c.319C>G	NP_001290039.1:p.Leu107Val
NM_001845.5:c.319C>G	NP_001836.3:p.Leu107Val
XM_011521048.1:c.127C>G	XP_011519350.1:p.Leu43Val
XM_011521048.2:c.127C>G	XP_011519350.1:p.Leu43Val
NM_001845.6:c.319C>G MANE Select	NP_001836.3:p.Leu107Val
NM_001303110.2:c.319C>G	NP_001290039.1:p.Leu107Val