Canonical Allele Identifier: CA5169530

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364469
• ClinVar RCV Id: RCV000266023 ; RCV000358327
• dbSNP Id: rs199976989
• ExAC: 9:107665986 T / G
• gnomAD v2: 9-107665986-T-G
• gnomAD v3: 9-104903705-T-G
• gnomAD v4: 9-104903705-T-G
• MyVariant Identifiers: chr9:g.107665986T>G (hg19) ; chr9:g.104903705T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104903705T>G , CM000671.2:g.104903705T>G	GRCh38
NC_000009.11:g.107665986T>G , CM000671.1:g.107665986T>G	GRCh37
NC_000009.10:g.106705807T>G	NCBI36
NG_007981.1:g.29451A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.-26A>C MANE Select	ENSP00000363868.3:n.-26A>C
ENST00000678995.1:c.-26A>C	ENSP00000504612.1:n.-26A>C
ENST00000374733.1:c.-114-14510A>C	ENSP00000363865.1:n.-114-14510A>C
ENST00000374736.7:c.-26A>C	ENSP00000363868.3:n.-26A>C
ENST00000423487.6:c.-26A>C	ENSP00000416623.2:n.-26A>C
NM_005502.3:c.-26A>C	NP_005493.2:n.-26A>C
XM_005251773.1:c.-26A>C	XP_005251830.1:n.-26A>C
XM_005251776.1:c.-114-14510A>C	XP_005251833.1:n.-114-14510A>C
XM_011518339.1:c.-26A>C	XP_011516641.1:n.-26A>C
XM_011518340.1:c.-26A>C	XP_011516642.1:n.-26A>C
XM_011518341.1:c.-26A>C	XP_011516643.1:n.-26A>C
XM_011518342.1:c.-155-14510A>C	XP_011516644.1:n.-155-14510A>C
XM_011518343.1:c.-26A>C	XP_011516645.1:n.-26A>C
XM_011518344.1:c.-26A>C	XP_011516646.1:n.-26A>C
XM_005251773.3:c.-26A>C	XP_005251830.1:n.-26A>C
XM_005251776.3:c.-114-14510A>C	XP_005251833.1:n.-114-14510A>C
XM_011518339.3:c.-26A>C	XP_011516641.1:n.-26A>C
XM_011518340.3:c.-26A>C	XP_011516642.1:n.-26A>C
XM_011518341.3:c.-26A>C	XP_011516643.1:n.-26A>C
XM_011518342.3:c.-155-14510A>C	XP_011516644.1:n.-155-14510A>C
XM_011518344.2:c.-26A>C	XP_011516646.1:n.-26A>C
XM_017014378.2:c.-26A>C	XP_016869867.1:n.-26A>C
XM_017014379.2:c.-26A>C	XP_016869868.1:n.-26A>C
XM_017014380.2:c.-26A>C	XP_016869869.1:n.-26A>C
XM_017014381.2:c.-26A>C	XP_016869870.1:n.-26A>C
XR_001746223.1:n.288A>C
NM_005502.4:c.-26A>C MANE Select	NP_005493.2:n.-26A>C