Canonical Allele Identifier: CA7047176
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067449
ClinVar RCV Id: RCV002953960
dbSNP Id: rs140702632
ExAC: 13:110822944 G / A
gnomAD v2: 13-110822944-G-A
gnomAD v3: 13-110170597-G-A
gnomAD v4: 13-110170597-G-A
MyVariant Identifiers: chr13:g.110822944G>A (hg19) chr13:g.110170597G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170597G>A , CM000675.2:g.110170597G>A GRCh38
NC_000013.10:g.110822944G>A , CM000675.1:g.110822944G>A GRCh37
NC_000013.9:g.109620945G>A NCBI36
NG_011544.2:g.141553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3692C>T MANE Select ENSP00000364979.4:p.Thr1231Met
ENST00000375820.8:c.3692C>T ENSP00000364979.4:p.Thr1231Met
NM_001845.5:c.3692C>T NP_001836.3:p.Thr1231Met
XM_011521048.1:c.3500C>T XP_011519350.1:p.Thr1167Met
XM_011521048.2:c.3500C>T XP_011519350.1:p.Thr1167Met
NM_001845.6:c.3692C>T MANE Select NP_001836.3:p.Thr1231Met
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