Canonical Allele Identifier: CA388664137
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315777
ClinVar RCV Id: RCV001755439
dbSNP Id: rs2139159488
MyVariant Identifiers: chr13:g.110826264C>T (hg19) chr13:g.110173917C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173917C>T , CM000675.2:g.110173917C>T GRCh38
NC_000013.10:g.110826264C>T , CM000675.1:g.110826264C>T GRCh37
NC_000013.9:g.109624265C>T NCBI36
NG_011544.2:g.138233G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3488G>A MANE Select ENSP00000364979.4:p.Gly1163Glu
ENST00000375820.8:c.3488G>A ENSP00000364979.4:p.Gly1163Glu
NM_001845.5:c.3488G>A NP_001836.3:p.Gly1163Glu
XM_011521048.1:c.3296G>A XP_011519350.1:p.Gly1099Glu
XM_011521048.2:c.3296G>A XP_011519350.1:p.Gly1099Glu
NM_001845.6:c.3488G>A MANE Select NP_001836.3:p.Gly1163Glu
Search 100 bp 5'
Search 100 bp 3'