Canonical Allele Identifier: CA388668660
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110831687T>G (hg19) chr13:g.110179340T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179340T>G , CM000675.2:g.110179340T>G GRCh38
NC_000013.10:g.110831687T>G , CM000675.1:g.110831687T>G GRCh37
NC_000013.9:g.109629688T>G NCBI36
NG_011544.2:g.132810A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2275A>C MANE Select ENSP00000364979.4:p.Ser759Arg
ENST00000649738.1:n.2405A>C
ENST00000375820.8:c.2275A>C ENSP00000364979.4:p.Ser759Arg
NM_001845.5:c.2275A>C NP_001836.3:p.Ser759Arg
XM_011521048.1:c.2083A>C XP_011519350.1:p.Ser695Arg
XM_011521048.2:c.2083A>C XP_011519350.1:p.Ser695Arg
NM_001845.6:c.2275A>C MANE Select NP_001836.3:p.Ser759Arg
Search 100 bp 5'
Search 100 bp 3'