Canonical Allele Identifier: CA612621649
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1402514995
gnomAD v2: 13-110818528-C-G
gnomAD v3: 13-110166181-C-G
gnomAD v4: 13-110166181-C-G
MyVariant Identifiers: chr13:g.110818528C>G (hg19) chr13:g.110166181C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166181C>G , CM000675.2:g.110166181C>G GRCh38
NC_000013.10:g.110818528C>G , CM000675.1:g.110818528C>G GRCh37
NC_000013.9:g.109616529C>G NCBI36
NG_011544.2:g.145969G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.4021+51G>C MANE Select ENSP00000364979.4:n.4021+51G>C
ENST00000650424.1:c.177+51G>C
ENST00000375820.8:c.4021+51G>C ENSP00000364979.4:n.4021+51G>C
NM_001845.5:c.4021+51G>C NP_001836.3:n.4021+51G>C
XM_011521048.1:c.3829+51G>C XP_011519350.1:n.3829+51G>C
XM_011521048.2:c.3829+51G>C XP_011519350.1:n.3829+51G>C
NM_001845.6:c.4021+51G>C MANE Select NP_001836.3:n.4021+51G>C
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