Canonical Allele Identifier: CA4182948

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359682
• ClinVar RCV Id: RCV000315398
• dbSNP Id: rs751059559
• ExAC: 7:21912932 A / T
• gnomAD v2: 7-21912932-A-T
• gnomAD v3: 7-21873314-A-T
• gnomAD v4: 7-21873314-A-T
• MyVariant Identifiers: chr7:g.21912932A>T (hg19) ; chr7:g.21873314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21873314A>T , CM000669.2:g.21873314A>T	GRCh38
NC_000007.13:g.21912932A>T , CM000669.1:g.21912932A>T	GRCh37
NC_000007.12:g.21879457A>T	NCBI36
NG_012886.2:g.335100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12008A>T MANE Select	ENSP00000475939.1:p.Lys4003Met
ENST00000328843.10:c.12029A>T	ENSP00000330671.7:p.Lys4010Met
ENST00000409508.7:c.12008A>T	ENSP00000475939.1:p.Lys4003Met
ENST00000620169.4:c.12029A>T	ENSP00000481693.1:p.Lys4010Met
NM_001277115.1:c.12008A>T	NP_001264044.1:p.Lys4003Met
NM_001277115.2:c.12008A>T MANE Select	NP_001264044.1:p.Lys4003Met