Canonical Allele Identifier: CA394880657

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16163061-A-C
• MyVariant Identifiers: chr16:g.16256918A>C (hg19) ; chr16:g.16163061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163061A>C , CM000678.2:g.16163061A>C	GRCh38
NC_000016.9:g.16256918A>C , CM000678.1:g.16256918A>C	GRCh37
NC_000016.8:g.16164419A>C	NCBI36
NG_007558.2:g.65411T>G
NG_007558.3:g.65557T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3438T>G	ENSP00000483331.2:p.Phe1146Leu
ENST00000205557.12:c.3438T>G MANE Select	ENSP00000205557.7:p.Phe1146Leu
ENST00000640696.1:c.321-1497T>G	ENSP00000492197.1:n.321-1497T>G
ENST00000205557.11:c.3438T>G	ENSP00000205557.7:p.Phe1146Leu
ENST00000456970.6:c.3132-1497T>G	ENSP00000405002.2:n.3132-1497T>G
ENST00000622290.4:c.*647T>G	ENSP00000483331.1:n.*647T>G
NM_001171.5:c.3438T>G	NP_001162.4:p.Phe1146Leu
XM_011522479.1:c.3405T>G	XP_011520781.1:p.Phe1135Leu
XM_011522480.1:c.3096T>G	XP_011520782.1:p.Phe1032Leu
XM_011522481.1:c.3096T>G	XP_011520783.1:p.Phe1032Leu
XR_932836.1:n.3673T>G
XR_932837.1:n.3543-1497T>G
XR_932838.1:n.3543-1497T>G
XR_933133.1:n.407+218A>C
XR_933134.1:n.754+218A>C
NM_001351800.1:c.3096T>G	NP_001338729.1:p.Phe1032Leu
NR_147784.1:n.3169-1497T>G
XM_011522479.2:c.3405T>G	XP_011520781.1:p.Phe1135Leu
XM_011522481.3:c.3096T>G	XP_011520783.1:p.Phe1032Leu
XM_017023212.1:c.3270T>G	XP_016878701.1:p.Phe1090Leu
XM_017023214.1:c.3307-1497T>G	XP_016878703.1:n.3307-1497T>G
XM_024450261.1:c.3474T>G	XP_024306029.1:p.Phe1158Leu
XR_932836.2:n.3619T>G
XR_932837.3:n.3488-1497T>G
XR_932838.3:n.3488-1497T>G
NM_001171.6:c.3438T>G MANE Select	NP_001162.5:p.Phe1146Leu