Canonical Allele Identifier: CA7047142
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2782535
ClinVar RCV Id: RCV003664027
dbSNP Id: rs759474854
ExAC: 13:110822081 C / G
gnomAD v2: 13-110822081-C-G
gnomAD v4: 13-110169734-C-G
MyVariant Identifiers: chr13:g.110822081C>G (hg19) chr13:g.110169734C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169734C>G , CM000675.2:g.110169734C>G GRCh38
NC_000013.10:g.110822081C>G , CM000675.1:g.110822081C>G GRCh37
NC_000013.9:g.109620082C>G NCBI36
NG_011544.2:g.142416G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3771G>C MANE Select ENSP00000364979.4:p.Gly1257=
ENST00000375820.8:c.3771G>C ENSP00000364979.4:p.Gly1257=
NM_001845.5:c.3771G>C NP_001836.3:p.Gly1257=
XM_011521048.1:c.3579G>C XP_011519350.1:p.Gly1193=
XM_011521048.2:c.3579G>C XP_011519350.1:p.Gly1193=
NM_001845.6:c.3771G>C MANE Select NP_001836.3:p.Gly1257=
Search 100 bp 5'
Search 100 bp 3'