Canonical Allele Identifier: CA484789110
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877756617
gnomAD v3: 13-110173910-C-T
gnomAD v4: 13-110173910-C-T
MyVariant Identifiers: chr13:g.110826257C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173910C>T , CM000675.2:g.110173910C>T GRCh38
NC_000013.10:g.110826257C>T , CM000675.1:g.110826257C>T GRCh37
NC_000013.9:g.109624258C>T NCBI36
NG_011544.2:g.138240G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3495G>A MANE Select ENSP00000364979.4:p.Lys1165=
ENST00000375820.8:c.3495G>A ENSP00000364979.4:p.Lys1165=
NM_001845.5:c.3495G>A NP_001836.3:p.Lys1165=
XM_011521048.1:c.3303G>A XP_011519350.1:p.Lys1101=
XM_011521048.2:c.3303G>A XP_011519350.1:p.Lys1101=
NM_001845.6:c.3495G>A MANE Select NP_001836.3:p.Lys1165=
Search 100 bp 5'
Search 100 bp 3'