Canonical Allele Identifier: CA484788769
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822060A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169713A>C , CM000675.2:g.110169713A>C GRCh38
NC_000013.10:g.110822060A>C , CM000675.1:g.110822060A>C GRCh37
NC_000013.9:g.109620061A>C NCBI36
NG_011544.2:g.142437T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3792T>G MANE Select ENSP00000364979.4:p.Val1264=
ENST00000375820.8:c.3792T>G ENSP00000364979.4:p.Val1264=
NM_001845.5:c.3792T>G NP_001836.3:p.Val1264=
XM_011521048.1:c.3600T>G XP_011519350.1:p.Val1200=
XM_011521048.2:c.3600T>G XP_011519350.1:p.Val1200=
NM_001845.6:c.3792T>G MANE Select NP_001836.3:p.Val1264=