Canonical Allele Identifier: CA4182979

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359683
• ClinVar RCV Id: RCV000370062 ; RCV001565307
• dbSNP Id: rs185794149
• ExAC: 7:21913098 C / T
• gnomAD v2: 7-21913098-C-T
• gnomAD v3: 7-21873480-C-T
• gnomAD v4: 7-21873480-C-T
• MyVariant Identifiers: chr7:g.21913098C>T (hg19) ; chr7:g.21873480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21873480C>T , CM000669.2:g.21873480C>T	GRCh38
NC_000007.13:g.21913098C>T , CM000669.1:g.21913098C>T	GRCh37
NC_000007.12:g.21879623C>T	NCBI36
NG_012886.2:g.335266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12174C>T MANE Select	ENSP00000475939.1:p.Ala4058=
ENST00000328843.10:c.12195C>T	ENSP00000330671.7:p.Ala4065=
ENST00000409508.7:c.12174C>T	ENSP00000475939.1:p.Ala4058=
ENST00000620169.4:c.12195C>T	ENSP00000481693.1:p.Ala4065=
NM_001277115.1:c.12174C>T	NP_001264044.1:p.Ala4058=
NM_001277115.2:c.12174C>T MANE Select	NP_001264044.1:p.Ala4058=