Canonical Allele Identifier: CA10410736

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49222720T>G , CM000685.2:g.49222720T>G	GRCh38
NC_000023.10:g.49079179T>G , CM000685.1:g.49079179T>G	GRCh37
NC_000023.9:g.48966123T>G	NCBI36
NG_009095.2:g.15647A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.2204A>C MANE Select	NP_001243718.1:p.Asn735Thr
ENST00000323022.10:c.2204A>C MANE Select	ENSP00000321618.6:p.Asn735Thr
NM_001256789.2:c.2204A>C	NP_001243718.1:p.Asn735Thr
NM_001256790.2:c.2042A>C	NP_001243719.1:p.Asn681Thr
NM_001256790.3:c.2042A>C	NP_001243719.1:p.Asn681Thr
NM_005183.3:c.2237A>C	NP_005174.2:p.Asn746Thr
NM_005183.4:c.2237A>C	NP_005174.2:p.Asn746Thr
ENST00000323022.9:c.2204A>C	ENSP00000321618.5:p.Asn735Thr
ENST00000376251.5:c.2042A>C	ENSP00000365427.1:p.Asn681Thr
ENST00000376265.2:c.2237A>C	ENSP00000365441.2:p.Asn746Thr
ENST00000480889.1:n.334A>C
XM_011543983.1:c.2042A>C	XP_011542285.1:p.Asn681Thr
XM_011543983.2:c.2042A>C	XP_011542285.1:p.Asn681Thr