Canonical Allele Identifier: CA5168846

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364439
• ClinVar RCV Id: RCV000265669 ; RCV000355736
• dbSNP Id: rs201599169
• ExAC: 9:107591316 G / A
• gnomAD v2: 9-107591316-G-A
• gnomAD v3: 9-104829035-G-A
• gnomAD v4: 9-104829035-G-A
• MyVariant Identifiers: chr9:g.107591316G>A (hg19) ; chr9:g.104829035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104829035G>A , CM000671.2:g.104829035G>A	GRCh38
NC_000009.11:g.107591316G>A , CM000671.1:g.107591316G>A	GRCh37
NC_000009.10:g.106631137G>A	NCBI36
NG_007981.1:g.104121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1996C>T MANE Select	ENSP00000363868.3:p.Arg666Trp
ENST00000678995.1:c.1996C>T	ENSP00000504612.1:p.Arg666Trp
ENST00000374736.7:c.1996C>T	ENSP00000363868.3:p.Arg666Trp
ENST00000494467.1:n.169C>T
NM_005502.3:c.1996C>T	NP_005493.2:p.Arg666Trp
XM_005251773.1:c.1996C>T	XP_005251830.1:p.Arg666Trp
XM_005251776.1:c.1816C>T	XP_005251833.1:p.Arg606Trp
XM_011518339.1:c.2071C>T	XP_011516641.1:p.Arg691Trp
XM_011518340.1:c.2071C>T	XP_011516642.1:p.Arg691Trp
XM_011518341.1:c.2071C>T	XP_011516643.1:p.Arg691Trp
XM_011518342.1:c.1633C>T	XP_011516644.1:p.Arg545Trp
XM_011518343.1:c.2071C>T	XP_011516645.1:p.Arg691Trp
XM_011518344.1:c.2071C>T	XP_011516646.1:p.Arg691Trp
XM_005251773.3:c.1996C>T	XP_005251830.1:p.Arg666Trp
XM_005251776.3:c.1816C>T	XP_005251833.1:p.Arg606Trp
XM_011518339.3:c.2071C>T	XP_011516641.1:p.Arg691Trp
XM_011518340.3:c.2071C>T	XP_011516642.1:p.Arg691Trp
XM_011518341.3:c.2071C>T	XP_011516643.1:p.Arg691Trp
XM_011518342.3:c.1633C>T	XP_011516644.1:p.Arg545Trp
XM_011518344.2:c.2071C>T	XP_011516646.1:p.Arg691Trp
XM_017014378.2:c.2071C>T	XP_016869867.1:p.Arg691Trp
XM_017014379.2:c.2071C>T	XP_016869868.1:p.Arg691Trp
XM_017014380.2:c.2071C>T	XP_016869869.1:p.Arg691Trp
XM_017014381.2:c.2071C>T	XP_016869870.1:p.Arg691Trp
XM_017014382.2:c.1933C>T	XP_016869871.1:p.Arg645Trp
XR_001746223.1:n.2384C>T
NM_005502.4:c.1996C>T MANE Select	NP_005493.2:p.Arg666Trp