Canonical Allele Identifier: CA388661816
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2861807
ClinVar RCV Id: RCV003704536
gnomAD v4: 13-110169695-A-T
MyVariant Identifiers: chr13:g.110822042A>T (hg19) chr13:g.110169695A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169695A>T , CM000675.2:g.110169695A>T GRCh38
NC_000013.10:g.110822042A>T , CM000675.1:g.110822042A>T GRCh37
NC_000013.9:g.109620043A>T NCBI36
NG_011544.2:g.142455T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3810T>A MANE Select ENSP00000364979.4:p.Asn1270Lys
ENST00000375820.8:c.3810T>A ENSP00000364979.4:p.Asn1270Lys
NM_001845.5:c.3810T>A NP_001836.3:p.Asn1270Lys
XM_011521048.1:c.3618T>A XP_011519350.1:p.Asn1206Lys
XM_011521048.2:c.3618T>A XP_011519350.1:p.Asn1206Lys
NM_001845.6:c.3810T>A MANE Select NP_001836.3:p.Asn1270Lys
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