Canonical Allele Identifier: CA2118733172
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1019759827
gnomAD v3: 13-110170022-G-GGGAA
gnomAD v4: 13-110170022-G-GGGAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170033_110170036dup , CM000675.2:g.110170033_110170036dup GRCh38
NC_000013.10:g.110822380_110822383dup , CM000675.1:g.110822380_110822383dup GRCh37
NC_000013.9:g.109620381_109620384dup NCBI36
NG_011544.2:g.142124_142127dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-264_3743-261dup MANE Select ENSP00000364979.4:n.3743-264_3743-261dup
ENST00000375820.8:c.3743-264_3743-261dup ENSP00000364979.4:n.3743-264_3743-261dup
NM_001845.5:c.3743-264_3743-261dup NP_001836.3:n.3743-264_3743-261dup
XM_011521048.1:c.3551-264_3551-261dup XP_011519350.1:n.3551-264_3551-261dup
XM_011521048.2:c.3551-264_3551-261dup XP_011519350.1:n.3551-264_3551-261dup
NM_001845.6:c.3743-264_3743-261dup MANE Select NP_001836.3:n.3743-264_3743-261dup
Search 100 bp 5'
Search 100 bp 3'