Canonical Allele Identifier: CA4180209

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410835
• ClinVar RCV Id: RCV000458384
• dbSNP Id: rs762090852
• ExAC: 7:21678623 C / G
• gnomAD v2: 7-21678623-C-G
• gnomAD v3: 7-21639005-C-G
• gnomAD v4: 7-21639005-C-G
• MyVariant Identifiers: chr7:g.21678623C>G (hg19) ; chr7:g.21639005C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21639005C>G , CM000669.2:g.21639005C>G	GRCh38
NC_000007.13:g.21678623C>G , CM000669.1:g.21678623C>G	GRCh37
NC_000007.12:g.21645148C>G	NCBI36
NG_012886.2:g.100791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4884C>G MANE Select	ENSP00000475939.1:p.Phe1628Leu
ENST00000328843.10:c.4899C>G	ENSP00000330671.7:p.Phe1633Leu
ENST00000409508.7:c.4884C>G	ENSP00000475939.1:p.Phe1628Leu
ENST00000620169.4:c.4899C>G	ENSP00000481693.1:p.Phe1633Leu
NM_001277115.1:c.4884C>G	NP_001264044.1:p.Phe1628Leu
NM_001277115.2:c.4884C>G MANE Select	NP_001264044.1:p.Phe1628Leu