Canonical Allele Identifier: CA388662295
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822918G>A (hg19) chr13:g.110170571G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170571G>A , CM000675.2:g.110170571G>A GRCh38
NC_000013.10:g.110822918G>A , CM000675.1:g.110822918G>A GRCh37
NC_000013.9:g.109620919G>A NCBI36
NG_011544.2:g.141579C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3718C>T MANE Select ENSP00000364979.4:p.Pro1240Ser
ENST00000375820.8:c.3718C>T ENSP00000364979.4:p.Pro1240Ser
NM_001845.5:c.3718C>T NP_001836.3:p.Pro1240Ser
XM_011521048.1:c.3526C>T XP_011519350.1:p.Pro1176Ser
XM_011521048.2:c.3526C>T XP_011519350.1:p.Pro1176Ser
NM_001845.6:c.3718C>T MANE Select NP_001836.3:p.Pro1240Ser
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