Canonical Allele Identifier: CA4180005
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs755395429
ExAC: 7:21658844 G / C
gnomAD v2: 7-21658844-G-C
gnomAD v4: 7-21619226-G-C
MyVariant Identifiers: chr7:g.21658844G>C (hg19) chr7:g.21619226G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619226G>C , CM000669.2:g.21619226G>C GRCh38
NC_000007.13:g.21658844G>C , CM000669.1:g.21658844G>C GRCh37
NC_000007.12:g.21625369G>C NCBI36
NG_012886.2:g.81012G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4377+4G>C MANE Select ENSP00000475939.1:n.4377+4G>C
ENST00000328843.10:c.4392+4G>C ENSP00000330671.7:n.4392+4G>C
ENST00000409508.7:c.4377+4G>C ENSP00000475939.1:n.4377+4G>C
ENST00000465593.1:n.403+4G>C
ENST00000620169.4:c.4392+4G>C ENSP00000481693.1:n.4392+4G>C
NM_001277115.1:c.4377+4G>C NP_001264044.1:n.4377+4G>C
NM_001277115.2:c.4377+4G>C MANE Select NP_001264044.1:n.4377+4G>C
Search 100 bp 5'
Search 100 bp 3'