Canonical Allele Identifier: CA394884724

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263614A>C (hg19) ; chr16:g.16169757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169757A>C , CM000678.2:g.16169757A>C	GRCh38
NC_000016.9:g.16263614A>C , CM000678.1:g.16263614A>C	GRCh37
NC_000016.8:g.16171115A>C	NCBI36
NG_007558.2:g.58715T>G
NG_007558.3:g.58861T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2884T>G	ENSP00000483331.2:p.Phe962Val
ENST00000205557.12:c.2884T>G MANE Select	ENSP00000205557.7:p.Phe962Val
ENST00000205557.11:c.2884T>G	ENSP00000205557.7:p.Phe962Val
ENST00000456970.6:c.2709T>G	ENSP00000405002.2:n.2709T>G
ENST00000622290.4:c.*93T>G	ENSP00000483331.1:n.*93T>G
NM_001171.5:c.2884T>G	NP_001162.4:p.Phe962Val
XM_011522479.1:c.2851T>G	XP_011520781.1:p.Phe951Val
XM_011522480.1:c.2542T>G	XP_011520782.1:p.Phe848Val
XM_011522481.1:c.2542T>G	XP_011520783.1:p.Phe848Val
XR_932836.1:n.3119T>G
XR_932837.1:n.3120T>G
XR_932838.1:n.3120T>G
NM_001351800.1:c.2542T>G	NP_001338729.1:p.Phe848Val
NR_147784.1:n.2746T>G
XM_011522479.2:c.2851T>G	XP_011520781.1:p.Phe951Val
XM_011522481.3:c.2542T>G	XP_011520783.1:p.Phe848Val
XM_017023212.1:c.2716T>G	XP_016878701.1:p.Phe906Val
XM_017023214.1:c.2884T>G	XP_016878703.1:p.Phe962Val
XM_024450261.1:c.2920T>G	XP_024306029.1:p.Phe974Val
XR_932836.2:n.3065T>G
XR_932837.3:n.3065T>G
XR_932838.3:n.3065T>G
NM_001171.6:c.2884T>G MANE Select	NP_001162.5:p.Phe962Val