Canonical Allele Identifier: CA4181291

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257930
• ClinVar RCV Id: RCV000250868 ; RCV000306683 ; RCV001706327 ; RCV003114422
• dbSNP Id: rs2072221
• ExAC: 7:21775443 G / T
• gnomAD v2: 7-21775443-G-T
• gnomAD v3: 7-21735825-G-T
• gnomAD v4: 7-21735825-G-T
• MyVariant Identifiers: chr7:g.21775443G>T (hg19) ; chr7:g.21735825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21735825G>T , CM000669.2:g.21735825G>T	GRCh38
NC_000007.13:g.21775443G>T , CM000669.1:g.21775443G>T	GRCh37
NC_000007.12:g.21741968G>T	NCBI36
NG_012886.2:g.197611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.7626G>T MANE Select	ENSP00000475939.1:p.Thr2542=
ENST00000328843.10:c.7647G>T	ENSP00000330671.7:p.Thr2549=
ENST00000409508.7:c.7626G>T	ENSP00000475939.1:p.Thr2542=
ENST00000605912.1:c.186G>T	ENSP00000476068.1:p.Thr62=
ENST00000620169.4:c.7647G>T	ENSP00000481693.1:p.Thr2549=
NM_001277115.1:c.7626G>T	NP_001264044.1:p.Thr2542=
NM_001277115.2:c.7626G>T MANE Select	NP_001264044.1:p.Thr2542=