Canonical Allele Identifier: CA388664123
Gene: COL4A1 HGNC NCBI

Linked Data

COSMIC: COSM1248848 COSM1248849
MyVariant Identifiers: chr13:g.110826258T>G (hg19) chr13:g.110173911T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173911T>G , CM000675.2:g.110173911T>G GRCh38
NC_000013.10:g.110826258T>G , CM000675.1:g.110826258T>G GRCh37
NC_000013.9:g.109624259T>G NCBI36
NG_011544.2:g.138239A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3494A>C MANE Select ENSP00000364979.4:p.Lys1165Thr
ENST00000375820.8:c.3494A>C ENSP00000364979.4:p.Lys1165Thr
NM_001845.5:c.3494A>C NP_001836.3:p.Lys1165Thr
XM_011521048.1:c.3302A>C XP_011519350.1:p.Lys1101Thr
XM_011521048.2:c.3302A>C XP_011519350.1:p.Lys1101Thr
NM_001845.6:c.3494A>C MANE Select NP_001836.3:p.Lys1165Thr
Search 100 bp 5'
Search 100 bp 3'