Canonical Allele Identifier: CA388665678
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521072
ClinVar RCV Id: RCV000624384
dbSNP Id: rs1555302942
MyVariant Identifiers: chr13:g.110827696C>T (hg19) chr13:g.110175349C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110175349C>T , CM000675.2:g.110175349C>T GRCh38
NC_000013.10:g.110827696C>T , CM000675.1:g.110827696C>T GRCh37
NC_000013.9:g.109625697C>T NCBI36
NG_011544.2:g.136801G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3067G>A MANE Select ENSP00000364979.4:p.Gly1023Arg
ENST00000375820.8:c.3067G>A ENSP00000364979.4:p.Gly1023Arg
NM_001845.5:c.3067G>A NP_001836.3:p.Gly1023Arg
XM_011521048.1:c.2875G>A XP_011519350.1:p.Gly959Arg
XM_011521048.2:c.2875G>A XP_011519350.1:p.Gly959Arg
NM_001845.6:c.3067G>A MANE Select NP_001836.3:p.Gly1023Arg
Search 100 bp 5'
Search 100 bp 3'