Canonical Allele Identifier: CA7925764

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433297
• ClinVar RCV Id: RCV000499181 ; RCV001857044
• dbSNP Id: rs72657700
• ExAC: 16:16263640 A / T
• gnomAD v2: 16-16263640-A-T
• gnomAD v3: 16-16169783-A-T
• gnomAD v4: 16-16169783-A-T
• MyVariant Identifiers: chr16:g.16263640A>T (hg19) ; chr16:g.16169783A>T (hg38)
• PubMed: PMID:11536079

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169783A>T , CM000678.2:g.16169783A>T	GRCh38
NC_000016.9:g.16263640A>T , CM000678.1:g.16263640A>T	GRCh37
NC_000016.8:g.16171141A>T	NCBI36
NG_007558.2:g.58689T>A
NG_007558.3:g.58835T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2858T>A	ENSP00000483331.2:p.Leu953His
ENST00000205557.12:c.2858T>A MANE Select	ENSP00000205557.7:p.Leu953His
ENST00000205557.11:c.2858T>A	ENSP00000205557.7:p.Leu953His
ENST00000456970.6:c.2683T>A	ENSP00000405002.2:n.2683T>A
ENST00000622290.4:c.*67T>A	ENSP00000483331.1:n.*67T>A
NM_001171.5:c.2858T>A	NP_001162.4:p.Leu953His
XM_011522479.1:c.2825T>A	XP_011520781.1:p.Leu942His
XM_011522480.1:c.2516T>A	XP_011520782.1:p.Leu839His
XM_011522481.1:c.2516T>A	XP_011520783.1:p.Leu839His
XR_932836.1:n.3093T>A
XR_932837.1:n.3094T>A
XR_932838.1:n.3094T>A
NM_001351800.1:c.2516T>A	NP_001338729.1:p.Leu839His
NR_147784.1:n.2720T>A
XM_011522479.2:c.2825T>A	XP_011520781.1:p.Leu942His
XM_011522481.3:c.2516T>A	XP_011520783.1:p.Leu839His
XM_017023212.1:c.2690T>A	XP_016878701.1:p.Leu897His
XM_017023214.1:c.2858T>A	XP_016878703.1:p.Leu953His
XM_024450261.1:c.2894T>A	XP_024306029.1:p.Leu965His
XR_932836.2:n.3039T>A
XR_932837.3:n.3039T>A
XR_932838.3:n.3039T>A
NM_001171.6:c.2858T>A MANE Select	NP_001162.5:p.Leu953His