Canonical Allele Identifier: CA15910571

Gene: ABCA8

Linked Data

• dbSNP Id: rs4148008
• gnomAD v2: 17-66875294-C-G
• gnomAD v3: 17-68879153-C-G
• gnomAD v4: 17-68879153-C-G
• MyVariant Identifiers: chr17:g.66875294C>G (hg19) ; chr17:g.68879153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68879153C>G , CM000679.2:g.68879153C>G	GRCh38
NC_000017.10:g.66875294C>G , CM000679.1:g.66875294C>G	GRCh37
NC_000017.9:g.64386889C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000586539.6:c.4039-1474G>C MANE Select	ENSP00000467271.1:n.4039-1474G>C
ENST00000269080.6:c.3919-1474G>C	ENSP00000269080.1:n.3919-1474G>C
ENST00000430352.6:c.4024-1474G>C	ENSP00000402814.3:n.4024-1474G>C
ENST00000586292.5:n.691-1474G>C
ENST00000586539.5:c.4039-1474G>C	ENSP00000467271.1:n.4039-1474G>C
ENST00000591459.1:n.1115G>C
NM_001288985.1:c.4039-1474G>C	NP_001275914.1:n.4039-1474G>C
NM_001288986.1:c.4024-1474G>C	NP_001275915.1:n.4024-1474G>C
NM_007168.3:c.3919-1474G>C	NP_009099.1:n.3919-1474G>C
XM_005256938.1:c.4039-1474G>C	XP_005256995.1:n.4039-1474G>C
XM_005256940.3:c.3856-1474G>C	XP_005256997.1:n.3856-1474G>C
XM_005256940.4:c.3856-1474G>C	XP_005256997.1:n.3856-1474G>C
XR_001752401.2:n.4375-1474G>C
XR_001752402.2:n.4305-1474G>C
XR_002957944.1:n.4210-1474G>C
XR_002957945.1:n.6827G>C
XR_002957946.1:n.5729-1474G>C
NM_001288985.2:c.4039-1474G>C MANE Select	NP_001275914.1:n.4039-1474G>C
NM_001375771.1:c.3856-1474G>C	NP_001362700.1:n.3856-1474G>C
NM_001375772.1:c.2617-1474G>C	NP_001362701.1:n.2617-1474G>C
NM_007168.4:c.3919-1474G>C	NP_009099.1:n.3919-1474G>C
NM_001288986.2:c.4024-1474G>C	NP_001275915.1:n.4024-1474G>C