Canonical Allele Identifier: CA2623672739
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110169618-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169618C>G , CM000675.2:g.110169618C>G GRCh38
NC_000013.10:g.110821965C>G , CM000675.1:g.110821965C>G GRCh37
NC_000013.9:g.109619966C>G NCBI36
NG_011544.2:g.142532G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3876+11G>C MANE Select ENSP00000364979.4:n.3876+11G>C
ENST00000650424.1:c.32+11G>C
ENST00000375820.8:c.3876+11G>C ENSP00000364979.4:n.3876+11G>C
NM_001845.5:c.3876+11G>C NP_001836.3:n.3876+11G>C
XM_011521048.1:c.3684+11G>C XP_011519350.1:n.3684+11G>C
XM_011521048.2:c.3684+11G>C XP_011519350.1:n.3684+11G>C
NM_001845.6:c.3876+11G>C MANE Select NP_001836.3:n.3876+11G>C
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