Canonical Allele Identifier: CA1637681

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 597119
• ClinVar RCV Id: RCV000733144 ; RCV003165990 ; RCV003492159
• dbSNP Id: rs371711306
• ExAC: 2:44104788 G / C
• gnomAD v2: 2-44104788-G-C
• gnomAD v3: 2-43877649-G-C
• gnomAD v4: 2-43877649-G-C
• MyVariant Identifiers: chr2:g.44104788G>C (hg19) ; chr2:g.43877649G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877649G>C , CM000664.2:g.43877649G>C	GRCh38
NC_000002.11:g.44104788G>C , CM000664.1:g.44104788G>C	GRCh37
NC_000002.10:g.43958292G>C	NCBI36
NG_008884.1:g.43686G>C
NG_008884.2:g.50708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1845G>C MANE Select	ENSP00000272286.2:p.Met615Ile
ENST00000272286.2:c.1845G>C	ENSP00000272286.2:p.Met615Ile
NM_022437.2:c.1845G>C	NP_071882.1:p.Met615Ile
XM_005264483.2:c.1842G>C	XP_005264540.1:p.Met614Ile
XM_011533029.1:c.1857G>C	XP_011531331.1:p.Met619Ile
XM_011533030.1:c.1854G>C	XP_011531332.1:p.Met618Ile
XM_011533031.1:c.1629G>C	XP_011531333.1:p.Met543Ile
XR_939707.1:n.2347G>C
NM_001357321.1:c.1842G>C	NP_001344250.1:p.Met614Ile
XM_011533029.2:c.1857G>C	XP_011531331.1:p.Met619Ile
XM_011533030.2:c.1854G>C	XP_011531332.1:p.Met618Ile
XR_001738891.1:n.2361G>C
XR_939707.2:n.2361G>C
NM_022437.3:c.1845G>C MANE Select	NP_071882.1:p.Met615Ile
NM_001357321.2:c.1842G>C	NP_001344250.1:p.Met614Ile