Canonical Allele Identifier: CA612866195
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2745426
ClinVar RCV Id: RCV003568056
dbSNP Id: rs1202981945
gnomAD v2: 13-110830293-A-G
gnomAD v3: 13-110177946-A-G
gnomAD v4: 13-110177946-A-G
MyVariant Identifiers: chr13:g.110830293A>G (hg19) chr13:g.110177946A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110177946A>G , CM000675.2:g.110177946A>G GRCh38
NC_000013.10:g.110830293A>G , CM000675.1:g.110830293A>G GRCh37
NC_000013.9:g.109628294A>G NCBI36
NG_011544.2:g.134204T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.2627-15T>C MANE Select ENSP00000364979.4:n.2627-15T>C
ENST00000375820.8:c.2627-15T>C ENSP00000364979.4:n.2627-15T>C
NM_001845.5:c.2627-15T>C NP_001836.3:n.2627-15T>C
XM_011521048.1:c.2435-15T>C XP_011519350.1:n.2435-15T>C
XM_011521048.2:c.2435-15T>C XP_011519350.1:n.2435-15T>C
NM_001845.6:c.2627-15T>C MANE Select NP_001836.3:n.2627-15T>C
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