Canonical Allele Identifier: CA155122422

Gene: DNAH11

Linked Data

• dbSNP Id: rs535988937
• gnomAD v2: 7-21856509-C-T
• gnomAD v3: 7-21816891-C-T
• gnomAD v4: 7-21816891-C-T
• MyVariant Identifiers: chr7:g.21856509C>T (hg19) ; chr7:g.21816891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816891C>T , CM000669.2:g.21816891C>T	GRCh38
NC_000007.13:g.21856509C>T , CM000669.1:g.21856509C>T	GRCh37
NC_000007.12:g.21823034C>T	NCBI36
NG_012886.2:g.278677C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10568+189C>T MANE Select	ENSP00000475939.1:n.10568+189C>T
ENST00000328843.10:c.10589+189C>T	ENSP00000330671.7:n.10589+189C>T
ENST00000409508.7:c.10568+189C>T	ENSP00000475939.1:n.10568+189C>T
ENST00000620169.4:c.10589+189C>T	ENSP00000481693.1:n.10589+189C>T
NM_001277115.1:c.10568+189C>T	NP_001264044.1:n.10568+189C>T
NM_001277115.2:c.10568+189C>T MANE Select	NP_001264044.1:n.10568+189C>T