Canonical Allele Identifier: CA405697021

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39200927A>C (hg19) ; chr19:g.38710287A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710287A>C , CM000681.2:g.38710287A>C	GRCh38
NC_000019.9:g.39200927A>C , CM000681.1:g.39200927A>C	GRCh37
NC_000019.8:g.43892767A>C	NCBI36
NG_007082.2:g.67601A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.733+811A>C	ENSP00000398393.2:n.733+811A>C
ENST00000697712.1:c.623A>C	ENSP00000513410.1:p.Lys208Thr
ENST00000252699.7:c.764A>C MANE Select	ENSP00000252699.2:p.Lys255Thr
ENST00000424234.7:c.733+811A>C	ENSP00000411187.4:n.733+811A>C
ENST00000440400.2:c.733+811A>C	ENSP00000398393.2:n.733+811A>C
ENST00000252699.6:c.764A>C	ENSP00000252699.2:p.Lys255Thr
ENST00000390009.7:c.163-4182A>C	ENSP00000439497.1:n.163-4182A>C
ENST00000424234.6:c.272+9578A>C	ENSP00000411187.3:n.272+9578A>C
ENST00000586538.1:c.136+811A>C	ENSP00000465176.1:n.136+811A>C
ENST00000588618.5:n.861A>C
ENST00000589528.1:c.285+9573A>C
NM_004924.4:c.764A>C	NP_004915.2:p.Lys255Thr
XM_005259281.3:c.764A>C	XP_005259338.1:p.Lys255Thr
XM_005259282.3:c.733+811A>C	XP_005259339.1:n.733+811A>C
XM_006723406.1:c.733+811A>C	XP_006723469.1:n.733+811A>C
NM_001322033.1:c.733+811A>C	NP_001308962.1:n.733+811A>C
NM_004924.5:c.764A>C	NP_004915.2:p.Lys255Thr
XM_005259281.5:c.764A>C	XP_005259338.1:p.Lys255Thr
XM_006723406.3:c.733+811A>C	XP_006723469.1:n.733+811A>C
XM_017027331.2:c.764A>C	XP_016882820.1:p.Lys255Thr
XR_001753937.1:n.123-8123T>G
NM_004924.6:c.764A>C MANE Select	NP_004915.2:p.Lys255Thr
NM_001322033.2:c.733+811A>C	NP_001308962.1:n.733+811A>C