Canonical Allele Identifier: CA454138937

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 2990505
• ClinVar RCV Id: RCV003847184
• MyVariant Identifiers: chr7:g.21583079C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21543461C>T , CM000669.2:g.21543461C>T	GRCh38
NC_000007.13:g.21583079C>T , CM000669.1:g.21583079C>T	GRCh37
NC_000007.12:g.21549604C>T	NCBI36
NG_012886.2:g.5247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.216C>T MANE Select	ENSP00000475939.1:p.Phe72=
ENST00000328843.10:c.216C>T	ENSP00000330671.7:p.Phe72=
ENST00000409508.7:c.216C>T	ENSP00000475939.1:p.Phe72=
ENST00000607050.1:n.16C>T
ENST00000620169.4:c.216C>T	ENSP00000481693.1:p.Phe72=
NM_001277115.1:c.216C>T	NP_001264044.1:p.Phe72=
NM_001277115.2:c.216C>T MANE Select	NP_001264044.1:p.Phe72=