Canonical Allele Identifier: CA484788739
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822036G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169689G>C , CM000675.2:g.110169689G>C GRCh38
NC_000013.10:g.110822036G>C , CM000675.1:g.110822036G>C GRCh37
NC_000013.9:g.109620037G>C NCBI36
NG_011544.2:g.142461C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3816C>G MANE Select ENSP00000364979.4:p.Gly1272=
ENST00000375820.8:c.3816C>G ENSP00000364979.4:p.Gly1272=
NM_001845.5:c.3816C>G NP_001836.3:p.Gly1272=
XM_011521048.1:c.3624C>G XP_011519350.1:p.Gly1208=
XM_011521048.2:c.3624C>G XP_011519350.1:p.Gly1208=
NM_001845.6:c.3816C>G MANE Select NP_001836.3:p.Gly1272=