Canonical Allele Identifier: CA388661800
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822035A>C (hg19) chr13:g.110169688A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169688A>C , CM000675.2:g.110169688A>C GRCh38
NC_000013.10:g.110822035A>C , CM000675.1:g.110822035A>C GRCh37
NC_000013.9:g.109620036A>C NCBI36
NG_011544.2:g.142462T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3817T>G MANE Select ENSP00000364979.4:p.Trp1273Gly
ENST00000375820.8:c.3817T>G ENSP00000364979.4:p.Trp1273Gly
NM_001845.5:c.3817T>G NP_001836.3:p.Trp1273Gly
XM_011521048.1:c.3625T>G XP_011519350.1:p.Trp1209Gly
XM_011521048.2:c.3625T>G XP_011519350.1:p.Trp1209Gly
NM_001845.6:c.3817T>G MANE Select NP_001836.3:p.Trp1273Gly
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