Canonical Allele Identifier: CA453965459
Gene: DNAH11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.21750216A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21710598A>C , CM000669.2:g.21710598A>C GRCh38
NC_000007.13:g.21750216A>C , CM000669.1:g.21750216A>C GRCh37
NC_000007.12:g.21716741A>C NCBI36
NG_012886.2:g.172384A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6729A>C MANE Select ENSP00000475939.1:p.Arg2243=
ENST00000328843.10:c.6750A>C ENSP00000330671.7:p.Arg2250=
ENST00000409508.7:c.6729A>C ENSP00000475939.1:p.Arg2243=
ENST00000620169.4:c.6750A>C ENSP00000481693.1:p.Arg2250=
NM_001277115.1:c.6729A>C NP_001264044.1:p.Arg2243=
NM_001277115.2:c.6729A>C MANE Select NP_001264044.1:p.Arg2243=