Canonical Allele Identifier: CA1736784

Gene: DNAH6

Linked Data

• ClinVar Variation Id: 402734
• ClinVar RCV Id: RCV000454775 ; RCV001637020
• dbSNP Id: rs11891970
• ExAC: 2:84800605 C / A
• gnomAD v2: 2-84800605-C-A
• gnomAD v3: 2-84573481-C-A
• gnomAD v4: 2-84573481-C-A
• MyVariant Identifiers: chr2:g.84800605C>A (hg19) ; chr2:g.84573481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84573481C>A , CM000664.2:g.84573481C>A	GRCh38
NC_000002.11:g.84800605C>A , CM000664.1:g.84800605C>A	GRCh37
NC_000002.10:g.84654116C>A	NCBI36
NG_050957.1:g.118942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389394.8:c.1818C>A MANE Select	ENSP00000374045.3:p.Ala606=
ENST00000237449.10:c.1818C>A	ENSP00000237449.6:p.Ala606=
ENST00000389394.7:c.1818C>A	ENSP00000374045.3:p.Ala606=
ENST00000476689.5:n.1168C>A
ENST00000494025.1:n.861C>A
NM_001370.1:c.1818C>A	NP_001361.1:p.Ala606=
XM_006711956.2:c.1818C>A	XP_006712019.1:p.Ala606=
XM_011532649.1:c.1818C>A	XP_011530951.1:p.Ala606=
XM_011532650.1:c.1818C>A	XP_011530952.1:p.Ala606=
XM_011532651.1:c.1818C>A	XP_011530953.1:p.Ala606=
XM_011532652.1:c.1818C>A	XP_011530954.1:p.Ala606=
XM_011532653.1:c.1818C>A	XP_011530955.1:p.Ala606=
XM_011532654.1:c.1428C>A	XP_011530956.1:p.Ala476=
XM_011532655.1:c.834C>A	XP_011530957.1:p.Ala278=
XM_011532656.1:c.555C>A	XP_011530958.1:p.Ala185=
XM_011532657.1:c.555C>A	XP_011530959.1:p.Ala185=
XM_011532658.1:c.324C>A	XP_011530960.1:p.Ala108=
XM_011532659.1:c.-23C>A	XP_011530961.1:n.-23C>A
XM_011532660.1:c.1818C>A	XP_011530962.1:p.Ala606=
XM_011532661.1:c.1818C>A	XP_011530963.1:p.Ala606=
XM_011532649.3:c.1818C>A	XP_011530951.1:p.Ala606=
XM_011532650.3:c.1818C>A	XP_011530952.1:p.Ala606=
XM_011532655.2:c.834C>A	XP_011530957.1:p.Ala278=
XM_017003521.1:c.1818C>A	XP_016859010.1:p.Ala606=
XM_017003522.2:c.555C>A	XP_016859011.1:p.Ala185=
XM_017003523.2:c.555C>A	XP_016859012.1:p.Ala185=
XM_017003524.1:c.1818C>A	XP_016859013.1:p.Ala606=
NM_001370.2:c.1818C>A MANE Select	NP_001361.1:p.Ala606=