Canonical Allele Identifier: CA4387086

Gene: ACTL6B

Linked Data

• dbSNP Id: rs762675826
• ExAC: 7:100244440 G / A
• gnomAD v2: 7-100244440-G-A
• gnomAD v3: 7-100646817-G-A
• gnomAD v4: 7-100646817-G-A
• MyVariant Identifiers: chr7:g.100244440G>A (hg19) ; chr7:g.100646817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646817G>A , CM000669.2:g.100646817G>A	GRCh38
NC_000007.13:g.100244440G>A , CM000669.1:g.100244440G>A	GRCh37
NC_000007.12:g.100082376G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.951C>T MANE Select	ENSP00000160382.5:p.Asn317=
ENST00000160382.9:c.951C>T	ENSP00000160382.5:p.Asn317=
ENST00000487125.1:n.513C>T
NM_016188.4:c.951C>T	NP_057272.1:p.Asn317=
XR_927476.1:n.1058C>T
NR_134539.1:n.1058C>T
NM_016188.5:c.951C>T MANE Select	NP_057272.1:p.Asn317=
NR_134539.2:n.1045C>T