Canonical Allele Identifier: CA16042820
Gene: COL4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.110205367G>A
GRCh37 chr13:g.110857714G>A
Revel Score:
ENST00000375815 0.356
ENST00000375820 (MANE Select) 0.356
ENST00000397198 0.356
ENST00000543140 0.356
ClinVar RCV:
RCV000414476
ClinVar Variation:
372328
dbSNP:
1057517719
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110205367G>A , CM000675.2:g.110205367G>A GRCh38
NC_000013.10:g.110857714G>A , CM000675.1:g.110857714G>A GRCh37
NC_000013.9:g.109655715G>A NCBI36
NG_011544.2:g.106783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.943C>T MANE Select ENSP00000364979.4:p.Arg315Cys
ENST00000543140.6:c.943C>T ENSP00000443348.1:p.Arg315Cys
ENST00000647632.1:n.576C>T
ENST00000647797.1:c.822C>T
ENST00000649738.1:n.1073C>T
ENST00000375820.8:c.943C>T ENSP00000364979.4:p.Arg315Cys
ENST00000543140.5:c.943C>T ENSP00000443348.1:p.Arg315Cys
NM_001303110.1:c.943C>T NP_001290039.1:p.Arg315Cys
NM_001845.5:c.943C>T NP_001836.3:p.Arg315Cys
XM_011521048.1:c.751C>T XP_011519350.1:p.Arg251Cys
XM_011521048.2:c.751C>T XP_011519350.1:p.Arg251Cys
NM_001845.6:c.943C>T MANE Select NP_001836.3:p.Arg315Cys
NM_001303110.2:c.943C>T NP_001290039.1:p.Arg315Cys
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