Canonical Allele Identifier: CA27246356
Gene: TLCD4-RWDD3 HGNC NCBI
RWDD3-DT HGNC NCBI

Linked Data

dbSNP Id: rs6671200
gnomAD v2: 1-95697529-A-C
gnomAD v3: 1-95231973-A-C
gnomAD v4: 1-95231973-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.95231973A>C , CM000663.2:g.95231973A>C GRCh38
NC_000001.10:g.95697529A>C , CM000663.1:g.95697529A>C GRCh37
NC_000001.9:g.95470117A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000604203.1:c.210+979A>C (TLCD4-RWDD3)
ENST00000604534.5:c.566+979A>C (TLCD4-RWDD3) ENSP00000475025.1:n.566+979A>C
NM_001199691.1:c.566+979A>C (TLCD4-RWDD3) NP_001186620.1:n.566+979A>C
NR_125948.1:n.283+1727T>G (RWDD3-DT)
NR_125949.1:n.283+1727T>G (RWDD3-DT)