Canonical Allele Identifier: CA7047126
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2724232
ClinVar RCV Id: RCV003561642 RCV003901164
dbSNP Id: rs767570461
ExAC: 13:110821967 A / G
gnomAD v2: 13-110821967-A-G
gnomAD v3: 13-110169620-A-G
gnomAD v4: 13-110169620-A-G
MyVariant Identifiers: chr13:g.110821967A>G (hg19) chr13:g.110169620A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169620A>G , CM000675.2:g.110169620A>G GRCh38
NC_000013.10:g.110821967A>G , CM000675.1:g.110821967A>G GRCh37
NC_000013.9:g.109619968A>G NCBI36
NG_011544.2:g.142530T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3876+9T>C MANE Select ENSP00000364979.4:n.3876+9T>C
ENST00000650424.1:c.32+9T>C
ENST00000375820.8:c.3876+9T>C ENSP00000364979.4:n.3876+9T>C
NM_001845.5:c.3876+9T>C NP_001836.3:n.3876+9T>C
XM_011521048.1:c.3684+9T>C XP_011519350.1:n.3684+9T>C
XM_011521048.2:c.3684+9T>C XP_011519350.1:n.3684+9T>C
NM_001845.6:c.3876+9T>C MANE Select NP_001836.3:n.3876+9T>C
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