Canonical Allele Identifier: CA484788864
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822916A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170569A>C , CM000675.2:g.110170569A>C GRCh38
NC_000013.10:g.110822916A>C , CM000675.1:g.110822916A>C GRCh37
NC_000013.9:g.109620917A>C NCBI36
NG_011544.2:g.141581T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3720T>G MANE Select ENSP00000364979.4:p.Pro1240=
ENST00000375820.8:c.3720T>G ENSP00000364979.4:p.Pro1240=
NM_001845.5:c.3720T>G NP_001836.3:p.Pro1240=
XM_011521048.1:c.3528T>G XP_011519350.1:p.Pro1176=
XM_011521048.2:c.3528T>G XP_011519350.1:p.Pro1176=
NM_001845.6:c.3720T>G MANE Select NP_001836.3:p.Pro1240=