Canonical Allele Identifier: CA341452
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17417
ClinVar RCV Id: RCV002247366
dbSNP Id: rs113994113

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110162425C>G , CM000675.2:g.110162425C>G GRCh38
NC_000013.10:g.110814772C>G , CM000675.1:g.110814772C>G GRCh37
NC_000013.9:g.109612773C>G NCBI36
NG_011544.2:g.149725G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.4267G>C MANE Select ENSP00000364979.4:p.Gly1423Arg
ENST00000649720.1:n.435G>C
ENST00000650424.1:c.423G>C
ENST00000375820.8:c.4267G>C ENSP00000364979.4:p.Gly1423Arg
ENST00000467182.1:n.46G>C
ENST00000474391.1:n.114G>C
NM_001845.5:c.4267G>C NP_001836.3:p.Gly1423Arg
XM_011521048.1:c.4075G>C XP_011519350.1:p.Gly1359Arg
XM_011521048.2:c.4075G>C XP_011519350.1:p.Gly1359Arg
NM_001845.6:c.4267G>C MANE Select NP_001836.3:p.Gly1423Arg