Canonical Allele Identifier: CA388662350
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822931T>G (hg19) chr13:g.110170584T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170584T>G , CM000675.2:g.110170584T>G GRCh38
NC_000013.10:g.110822931T>G , CM000675.1:g.110822931T>G GRCh37
NC_000013.9:g.109620932T>G NCBI36
NG_011544.2:g.141566A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3705A>C MANE Select ENSP00000364979.4:p.Lys1235Asn
ENST00000375820.8:c.3705A>C ENSP00000364979.4:p.Lys1235Asn
NM_001845.5:c.3705A>C NP_001836.3:p.Lys1235Asn
XM_011521048.1:c.3513A>C XP_011519350.1:p.Lys1171Asn
XM_011521048.2:c.3513A>C XP_011519350.1:p.Lys1171Asn
NM_001845.6:c.3705A>C MANE Select NP_001836.3:p.Lys1235Asn
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