Canonical Allele Identifier: CA4182376

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 2835712
• ClinVar RCV Id: RCV003651283
• dbSNP Id: rs769302465
• ExAC: 7:21856254 A / T
• gnomAD v2: 7-21856254-A-T
• gnomAD v3: 7-21816636-A-T
• gnomAD v4: 7-21816636-A-T
• MyVariant Identifiers: chr7:g.21856254A>T (hg19) ; chr7:g.21816636A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816636A>T , CM000669.2:g.21816636A>T	GRCh38
NC_000007.13:g.21856254A>T , CM000669.1:g.21856254A>T	GRCh37
NC_000007.12:g.21822779A>T	NCBI36
NG_012886.2:g.278422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10502A>T MANE Select	ENSP00000475939.1:p.Gln3501Leu
ENST00000328843.10:c.10523A>T	ENSP00000330671.7:p.Gln3508Leu
ENST00000409508.7:c.10502A>T	ENSP00000475939.1:p.Gln3501Leu
ENST00000620169.4:c.10523A>T	ENSP00000481693.1:p.Gln3508Leu
NM_001277115.1:c.10502A>T	NP_001264044.1:p.Gln3501Leu
NM_001277115.2:c.10502A>T MANE Select	NP_001264044.1:p.Gln3501Leu