Canonical Allele Identifier: CA1637677

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 288712
• ClinVar RCV Id: RCV000384026 ; RCV003967782
• dbSNP Id: rs189249032
• ExAC: 2:44104780 T / C
• gnomAD v2: 2-44104780-T-C
• gnomAD v3: 2-43877641-T-C
• gnomAD v4: 2-43877641-T-C
• COSMIC: COSM3185073
• MyVariant Identifiers: chr2:g.44104780T>C (hg19) ; chr2:g.43877641T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877641T>C , CM000664.2:g.43877641T>C	GRCh38
NC_000002.11:g.44104780T>C , CM000664.1:g.44104780T>C	GRCh37
NC_000002.10:g.43958284T>C	NCBI36
NG_008884.1:g.43678T>C
NG_008884.2:g.50700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1837T>C MANE Select	ENSP00000272286.2:p.Tyr613His
ENST00000272286.2:c.1837T>C	ENSP00000272286.2:p.Tyr613His
NM_022437.2:c.1837T>C	NP_071882.1:p.Tyr613His
XM_005264483.2:c.1834T>C	XP_005264540.1:p.Tyr612His
XM_011533029.1:c.1849T>C	XP_011531331.1:p.Tyr617His
XM_011533030.1:c.1846T>C	XP_011531332.1:p.Tyr616His
XM_011533031.1:c.1621T>C	XP_011531333.1:p.Tyr541His
XR_939707.1:n.2339T>C
NM_001357321.1:c.1834T>C	NP_001344250.1:p.Tyr612His
XM_011533029.2:c.1849T>C	XP_011531331.1:p.Tyr617His
XM_011533030.2:c.1846T>C	XP_011531332.1:p.Tyr616His
XR_001738891.1:n.2353T>C
XR_939707.2:n.2353T>C
NM_022437.3:c.1837T>C MANE Select	NP_071882.1:p.Tyr613His
NM_001357321.2:c.1834T>C	NP_001344250.1:p.Tyr612His