Canonical Allele Identifier: CA388661980
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877518573
gnomAD v4: 13-110169733-G-C
MyVariant Identifiers: chr13:g.110822080G>C (hg19) chr13:g.110169733G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169733G>C , CM000675.2:g.110169733G>C GRCh38
NC_000013.10:g.110822080G>C , CM000675.1:g.110822080G>C GRCh37
NC_000013.9:g.109620081G>C NCBI36
NG_011544.2:g.142417C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3772C>G MANE Select ENSP00000364979.4:p.Leu1258Val
ENST00000375820.8:c.3772C>G ENSP00000364979.4:p.Leu1258Val
NM_001845.5:c.3772C>G NP_001836.3:p.Leu1258Val
XM_011521048.1:c.3580C>G XP_011519350.1:p.Leu1194Val
XM_011521048.2:c.3580C>G XP_011519350.1:p.Leu1194Val
NM_001845.6:c.3772C>G MANE Select NP_001836.3:p.Leu1258Val
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