Canonical Allele Identifier: CA10640226

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 306150
• ClinVar RCV Id: RCV000301811 ; RCV000346140 ; RCV000396989
• dbSNP Id: rs545774605
• gnomAD v2: 11-76839428-G-A
• gnomAD v3: 11-77128382-G-A
• gnomAD v4: 11-77128382-G-A
• MyVariant Identifiers: chr11:g.76839428G>A (hg19) ; chr11:g.77128382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77128382G>A , CM000673.2:g.77128382G>A	GRCh38
NC_000011.9:g.76839428G>A , CM000673.1:g.76839428G>A	GRCh37
NC_000011.8:g.76517076G>A	NCBI36
NG_009086.1:g.5119G>A
NG_009086.2:g.5137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.-154G>A MANE Select	ENSP00000386331.3:n.-154G>A
ENST00000409619.6:c.-267G>A	ENSP00000386635.2:n.-267G>A
ENST00000409709.7:c.-154G>A	ENSP00000386331.3:n.-154G>A
ENST00000409893.5:c.-154G>A	ENSP00000386689.1:n.-154G>A
ENST00000458637.6:c.-154G>A	ENSP00000392185.2:n.-154G>A
ENST00000620575.4:c.-154G>A	ENSP00000477640.1:n.-154G>A
NM_000260.3:c.-154G>A	NP_000251.3:n.-154G>A
NM_001127179.2:c.-154G>A	NP_001120651.2:n.-154G>A
NM_001127180.1:c.-154G>A	NP_001120652.1:n.-154G>A
XM_005274012.2:c.-154G>A	XP_005274069.1:n.-154G>A
XM_006718558.2:c.-154G>A	XP_006718621.1:n.-154G>A
XM_006718559.2:c.-154G>A	XP_006718622.1:n.-154G>A
XM_006718560.2:c.-154G>A	XP_006718623.1:n.-154G>A
XM_006718561.2:c.-154G>A	XP_006718624.1:n.-154G>A
XM_011545044.1:c.-154G>A	XP_011543346.1:n.-154G>A
XM_011545045.1:c.-154G>A	XP_011543347.1:n.-154G>A
XM_011545047.1:c.-154G>A	XP_011543349.1:n.-154G>A
XM_011545048.1:c.-154G>A	XP_011543350.1:n.-154G>A
XM_011545049.1:c.-154G>A	XP_011543351.1:n.-154G>A
XM_011545051.1:c.-154G>A	XP_011543353.1:n.-154G>A
XM_011545052.1:c.-154G>A	XP_011543354.1:n.-154G>A
XR_949938.1:n.167G>A
XR_949941.1:n.167G>A
XR_949942.1:n.169G>A
XR_949943.1:n.169G>A
XM_011545044.2:c.-154G>A	XP_011543346.1:n.-154G>A
NM_000260.4:c.-154G>A MANE Select	NP_000251.3:n.-154G>A
NM_001127180.2:c.-154G>A	NP_001120652.1:n.-154G>A
NM_001369365.1:c.-267G>A	NP_001356294.1:n.-267G>A