Canonical Allele Identifier: CA484788884
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822943C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170596C>A , CM000675.2:g.110170596C>A GRCh38
NC_000013.10:g.110822943C>A , CM000675.1:g.110822943C>A GRCh37
NC_000013.9:g.109620944C>A NCBI36
NG_011544.2:g.141554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3693G>T MANE Select ENSP00000364979.4:p.Thr1231=
ENST00000375820.8:c.3693G>T ENSP00000364979.4:p.Thr1231=
NM_001845.5:c.3693G>T NP_001836.3:p.Thr1231=
XM_011521048.1:c.3501G>T XP_011519350.1:p.Thr1167=
XM_011521048.2:c.3501G>T XP_011519350.1:p.Thr1167=
NM_001845.6:c.3693G>T MANE Select NP_001836.3:p.Thr1231=