Canonical Allele Identifier: CA4387062

Gene: ACTL6B

Linked Data

• dbSNP Id: rs368300317
• ExAC: 7:100244297 C / T
• gnomAD v2: 7-100244297-C-T
• gnomAD v3: 7-100646674-C-T
• gnomAD v4: 7-100646674-C-T
• MyVariant Identifiers: chr7:g.100244297C>T (hg19) ; chr7:g.100646674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646674C>T , CM000669.2:g.100646674C>T	GRCh38
NC_000007.13:g.100244297C>T , CM000669.1:g.100244297C>T	GRCh37
NC_000007.12:g.100082233C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1018-28G>A MANE Select	ENSP00000160382.5:n.1018-28G>A
ENST00000160382.9:c.1018-28G>A	ENSP00000160382.5:n.1018-28G>A
ENST00000487125.1:n.580-28G>A
NM_016188.4:c.1018-28G>A	NP_057272.1:n.1018-28G>A
XR_927476.1:n.1125-28G>A
NR_134539.1:n.1125-28G>A
NM_016188.5:c.1018-28G>A MANE Select	NP_057272.1:n.1018-28G>A
NR_134539.2:n.1112-28G>A