Canonical Allele Identifier: CA412964391

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557107812
• gnomAD v2: X-49074389-T-A
• gnomAD v4: X-49217930-T-A
• MyVariant Identifiers: chrX:g.49074389T>A (hg19) ; chrX:g.49217930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217930T>A , CM000685.2:g.49217930T>A	GRCh38
NC_000023.10:g.49074389T>A , CM000685.1:g.49074389T>A	GRCh37
NC_000023.9:g.48961333T>A	NCBI36
NG_009095.2:g.20437A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3004A>T MANE Select	ENSP00000321618.6:p.Met1002Leu
ENST00000323022.9:c.3004A>T	ENSP00000321618.5:p.Met1002Leu
ENST00000376251.5:c.2842A>T	ENSP00000365427.1:p.Met948Leu
ENST00000376265.2:c.3037A>T	ENSP00000365441.2:p.Met1013Leu
NM_001256789.2:c.3004A>T	NP_001243718.1:p.Met1002Leu
NM_001256790.2:c.2842A>T	NP_001243719.1:p.Met948Leu
NM_005183.3:c.3037A>T	NP_005174.2:p.Met1013Leu
XM_011543983.1:c.2842A>T	XP_011542285.1:p.Met948Leu
XM_011543983.2:c.2842A>T	XP_011542285.1:p.Met948Leu
XM_017029836.1:c.271A>T	XP_016885325.1:p.Met91Leu
NM_001256789.3:c.3004A>T MANE Select	NP_001243718.1:p.Met1002Leu
NM_001256790.3:c.2842A>T	NP_001243719.1:p.Met948Leu
NM_005183.4:c.3037A>T	NP_005174.2:p.Met1013Leu