Canonical Allele Identifier: CA212916

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 9488
• ClinVar RCV Id: RCV000010096 ; RCV001851780
• dbSNP Id: rs28937313
• ExAC: 9:107584801 T / C
• gnomAD v2: 9-107584801-T-C
• gnomAD v4: 9-104822520-T-C
• COSMIC: COSM301590
• MyVariant Identifiers: chr9:g.107584801T>C (hg19) ; chr9:g.104822520T>C (hg38)
• PubMed: PMID:10431237

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104822520T>C , CM000671.2:g.104822520T>C	GRCh38
NC_000009.11:g.107584801T>C , CM000671.1:g.107584801T>C	GRCh37
NC_000009.10:g.106624622T>C	NCBI36
NG_007981.1:g.110636A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2804A>G MANE Select	ENSP00000363868.3:p.Asn935Ser
ENST00000678995.1:c.2804A>G	ENSP00000504612.1:p.Asn935Ser
ENST00000374736.7:c.2804A>G	ENSP00000363868.3:p.Asn935Ser
NM_005502.3:c.2804A>G	NP_005493.2:p.Asn935Ser
XM_005251773.1:c.2804A>G	XP_005251830.1:p.Asn935Ser
XM_005251776.1:c.2624A>G	XP_005251833.1:p.Asn875Ser
XM_011518339.1:c.2879A>G	XP_011516641.1:p.Asn960Ser
XM_011518340.1:c.2879A>G	XP_011516642.1:p.Asn960Ser
XM_011518341.1:c.2879A>G	XP_011516643.1:p.Asn960Ser
XM_011518342.1:c.2441A>G	XP_011516644.1:p.Asn814Ser
XM_011518343.1:c.2879A>G	XP_011516645.1:p.Asn960Ser
XM_011518344.1:c.2879A>G	XP_011516646.1:p.Asn960Ser
XM_005251773.3:c.2804A>G	XP_005251830.1:p.Asn935Ser
XM_005251776.3:c.2624A>G	XP_005251833.1:p.Asn875Ser
XM_011518339.3:c.2879A>G	XP_011516641.1:p.Asn960Ser
XM_011518340.3:c.2879A>G	XP_011516642.1:p.Asn960Ser
XM_011518341.3:c.2879A>G	XP_011516643.1:p.Asn960Ser
XM_011518342.3:c.2441A>G	XP_011516644.1:p.Asn814Ser
XM_011518344.2:c.2879A>G	XP_011516646.1:p.Asn960Ser
XM_017014378.2:c.2879A>G	XP_016869867.1:p.Asn960Ser
XM_017014379.2:c.2879A>G	XP_016869868.1:p.Asn960Ser
XM_017014380.2:c.2879A>G	XP_016869869.1:p.Asn960Ser
XM_017014381.2:c.2879A>G	XP_016869870.1:p.Asn960Ser
XM_017014382.2:c.2741A>G	XP_016869871.1:p.Asn914Ser
XR_001746223.1:n.3192A>G
NM_005502.4:c.2804A>G MANE Select	NP_005493.2:p.Asn935Ser