Canonical Allele Identifier: CA256248467
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs192243536
gnomAD v3: 13-110166186-T-C
gnomAD v4: 13-110166186-T-C
MyVariant Identifiers: chr13:g.110818533T>C (hg19) chr13:g.110166186T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166186T>C , CM000675.2:g.110166186T>C GRCh38
NC_000013.10:g.110818533T>C , CM000675.1:g.110818533T>C GRCh37
NC_000013.9:g.109616534T>C NCBI36
NG_011544.2:g.145964A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.4021+46A>G MANE Select ENSP00000364979.4:n.4021+46A>G
ENST00000650424.1:c.177+46A>G
ENST00000375820.8:c.4021+46A>G ENSP00000364979.4:n.4021+46A>G
NM_001845.5:c.4021+46A>G NP_001836.3:n.4021+46A>G
XM_011521048.1:c.3829+46A>G XP_011519350.1:n.3829+46A>G
XM_011521048.2:c.3829+46A>G XP_011519350.1:n.3829+46A>G
NM_001845.6:c.4021+46A>G MANE Select NP_001836.3:n.4021+46A>G
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