Canonical Allele Identifier: CA612622550
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1354567157
gnomAD v2: 13-110821708-C-T
gnomAD v3: 13-110169361-C-T
gnomAD v4: 13-110169361-C-T
MyVariant Identifiers: chr13:g.110821708C>T (hg19) chr13:g.110169361C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169361C>T , CM000675.2:g.110169361C>T GRCh38
NC_000013.10:g.110821708C>T , CM000675.1:g.110821708C>T GRCh37
NC_000013.9:g.109619709C>T NCBI36
NG_011544.2:g.142789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+268G>A MANE Select ENSP00000364979.4:n.3876+268G>A
ENST00000650424.1:c.32+268G>A
ENST00000375820.8:c.3876+268G>A ENSP00000364979.4:n.3876+268G>A
NM_001845.5:c.3876+268G>A NP_001836.3:n.3876+268G>A
XM_011521048.1:c.3684+268G>A XP_011519350.1:n.3684+268G>A
XM_011521048.2:c.3684+268G>A XP_011519350.1:n.3684+268G>A
NM_001845.6:c.3876+268G>A MANE Select NP_001836.3:n.3876+268G>A
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