Canonical Allele Identifier: CA484789112
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1320372098
gnomAD v3: 13-110173916-T-C
gnomAD v4: 13-110173916-T-C
MyVariant Identifiers: chr13:g.110826263T>C (hg19) chr13:g.110173916T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173916T>C , CM000675.2:g.110173916T>C GRCh38
NC_000013.10:g.110826263T>C , CM000675.1:g.110826263T>C GRCh37
NC_000013.9:g.109624264T>C NCBI36
NG_011544.2:g.138234A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3489A>G MANE Select ENSP00000364979.4:p.Gly1163=
ENST00000375820.8:c.3489A>G ENSP00000364979.4:p.Gly1163=
NM_001845.5:c.3489A>G NP_001836.3:p.Gly1163=
XM_011521048.1:c.3297A>G XP_011519350.1:p.Gly1099=
XM_011521048.2:c.3297A>G XP_011519350.1:p.Gly1099=
NM_001845.6:c.3489A>G MANE Select NP_001836.3:p.Gly1163=
Search 100 bp 5'
Search 100 bp 3'