Canonical Allele Identifier: CA2600370157
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs2139153993
gnomAD v3: 13-110169416-T-C
gnomAD v4: 13-110169416-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169416T>C , CM000675.2:g.110169416T>C GRCh38
NC_000013.10:g.110821763T>C , CM000675.1:g.110821763T>C GRCh37
NC_000013.9:g.109619764T>C NCBI36
NG_011544.2:g.142734A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+213A>G MANE Select ENSP00000364979.4:n.3876+213A>G
ENST00000650424.1:c.32+213A>G
ENST00000375820.8:c.3876+213A>G ENSP00000364979.4:n.3876+213A>G
NM_001845.5:c.3876+213A>G NP_001836.3:n.3876+213A>G
XM_011521048.1:c.3684+213A>G XP_011519350.1:n.3684+213A>G
XM_011521048.2:c.3684+213A>G XP_011519350.1:n.3684+213A>G
NM_001845.6:c.3876+213A>G MANE Select NP_001836.3:n.3876+213A>G
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