Canonical Allele Identifier: CA10410563
Gene: CACNA1F HGNC NCBI

Linked Data

dbSNP Id: rs781805504
gnomAD v2: X-49074421-T-C
gnomAD v4: X-49217962-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217962T>C , CM000685.2:g.49217962T>C GRCh38
NC_000023.10:g.49074421T>C , CM000685.1:g.49074421T>C GRCh37
NC_000023.9:g.48961365T>C NCBI36
NG_009095.2:g.20405A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2972A>G MANE Select ENSP00000321618.6:p.Asn991Ser
ENST00000323022.9:c.2972A>G ENSP00000321618.5:p.Asn991Ser
ENST00000376251.5:c.2810A>G ENSP00000365427.1:p.Asn937Ser
ENST00000376265.2:c.3005A>G ENSP00000365441.2:p.Asn1002Ser
NM_001256789.2:c.2972A>G NP_001243718.1:p.Asn991Ser
NM_001256790.2:c.2810A>G NP_001243719.1:p.Asn937Ser
NM_005183.3:c.3005A>G NP_005174.2:p.Asn1002Ser
XM_011543983.1:c.2810A>G XP_011542285.1:p.Asn937Ser
XM_011543983.2:c.2810A>G XP_011542285.1:p.Asn937Ser
XM_017029836.1:c.239A>G XP_016885325.1:p.Asn80Ser
NM_001256789.3:c.2972A>G MANE Select NP_001243718.1:p.Asn991Ser
NM_001256790.3:c.2810A>G NP_001243719.1:p.Asn937Ser
NM_005183.4:c.3005A>G NP_005174.2:p.Asn1002Ser