Canonical Allele Identifier: CA7047635
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs753944017
ExAC: 13:110831605 T / C
gnomAD v2: 13-110831605-T-C
gnomAD v3: 13-110179258-T-C
gnomAD v4: 13-110179258-T-C
MyVariant Identifiers: chr13:g.110831605T>C (hg19) chr13:g.110179258T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179258T>C , CM000675.2:g.110179258T>C GRCh38
NC_000013.10:g.110831605T>C , CM000675.1:g.110831605T>C GRCh37
NC_000013.9:g.109629606T>C NCBI36
NG_011544.2:g.132892A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+13A>G MANE Select ENSP00000364979.4:n.2344+13A>G
ENST00000649738.1:n.2474+13A>G
ENST00000375820.8:c.2344+13A>G ENSP00000364979.4:n.2344+13A>G
NM_001845.5:c.2344+13A>G NP_001836.3:n.2344+13A>G
XM_011521048.1:c.2152+13A>G XP_011519350.1:n.2152+13A>G
XM_011521048.2:c.2152+13A>G XP_011519350.1:n.2152+13A>G
NM_001845.6:c.2344+13A>G MANE Select NP_001836.3:n.2344+13A>G
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