Canonical Allele Identifier: CA278636159

Gene: ABCC6

Linked Data

• dbSNP Id: rs966638212
• gnomAD v2: 16-16263592-C-G
• gnomAD v4: 16-16169735-C-G
• MyVariant Identifiers: chr16:g.16263592C>G (hg19) ; chr16:g.16169735C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169735C>G , CM000678.2:g.16169735C>G	GRCh38
NC_000016.9:g.16263592C>G , CM000678.1:g.16263592C>G	GRCh37
NC_000016.8:g.16171093C>G	NCBI36
NG_007558.2:g.58737G>C
NG_007558.3:g.58883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2906G>C	ENSP00000483331.2:p.Ser969Thr
ENST00000205557.12:c.2906G>C MANE Select	ENSP00000205557.7:p.Ser969Thr
ENST00000205557.11:c.2906G>C	ENSP00000205557.7:p.Ser969Thr
ENST00000456970.6:c.2731G>C	ENSP00000405002.2:n.2731G>C
ENST00000622290.4:c.*115G>C	ENSP00000483331.1:n.*115G>C
NM_001171.5:c.2906G>C	NP_001162.4:p.Ser969Thr
XM_011522479.1:c.2873G>C	XP_011520781.1:p.Ser958Thr
XM_011522480.1:c.2564G>C	XP_011520782.1:p.Ser855Thr
XM_011522481.1:c.2564G>C	XP_011520783.1:p.Ser855Thr
XR_932836.1:n.3141G>C
XR_932837.1:n.3142G>C
XR_932838.1:n.3142G>C
NM_001351800.1:c.2564G>C	NP_001338729.1:p.Ser855Thr
NR_147784.1:n.2768G>C
XM_011522479.2:c.2873G>C	XP_011520781.1:p.Ser958Thr
XM_011522481.3:c.2564G>C	XP_011520783.1:p.Ser855Thr
XM_017023212.1:c.2738G>C	XP_016878701.1:p.Ser913Thr
XM_017023214.1:c.2906G>C	XP_016878703.1:p.Ser969Thr
XM_024450261.1:c.2942G>C	XP_024306029.1:p.Ser981Thr
XR_932836.2:n.3087G>C
XR_932837.3:n.3087G>C
XR_932838.3:n.3087G>C
NM_001171.6:c.2906G>C MANE Select	NP_001162.5:p.Ser969Thr