Canonical Allele Identifier: CA4182675

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410863
• ClinVar RCV Id: RCV000469208 ; RCV001753904
• dbSNP Id: rs201120788
• ExAC: 7:21901500 C / G
• gnomAD v2: 7-21901500-C-G
• gnomAD v3: 7-21861882-C-G
• gnomAD v4: 7-21861882-C-G
• MyVariant Identifiers: chr7:g.21901500C>G (hg19) ; chr7:g.21861882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21861882C>G , CM000669.2:g.21861882C>G	GRCh38
NC_000007.13:g.21901500C>G , CM000669.1:g.21901500C>G	GRCh37
NC_000007.12:g.21868025C>G	NCBI36
NG_012886.2:g.323668C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11232C>G MANE Select	ENSP00000475939.1:p.Ile3744Met
ENST00000328843.10:c.11253C>G	ENSP00000330671.7:p.Ile3751Met
ENST00000409508.7:c.11232C>G	ENSP00000475939.1:p.Ile3744Met
ENST00000421290.1:n.415C>G
ENST00000607413.5:n.495C>G
ENST00000620169.4:c.11253C>G	ENSP00000481693.1:p.Ile3751Met
NM_001277115.1:c.11232C>G	NP_001264044.1:p.Ile3744Met
NM_001277115.2:c.11232C>G MANE Select	NP_001264044.1:p.Ile3744Met